Hugo Moser | Academic Influence

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Hugo Moser

Philosophy

#3998

World Rank

#6355

Historical Rank

#1218

USA Rank

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#1659

World Rank

#2465

Historical Rank

#475

USA Rank

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Philosophy

Hugo Moser 's Degrees

Doctorate Medicine University of Bern

Why Is Hugo Moser Influential?

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According to Wikipedia, Hugo Wolfgang Moser was a Swiss-born American research scientist and director of the Neurogenetics Research Center at the Kennedy Krieger Institute. Moser was also University Professor of Neurology and Pediatrics at Johns Hopkins University. His research on peroxisomal disorders achieved international recognition.

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Hugo Moser 's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters (1993) (1129)
Imaging cortical association tracts in the human brain using diffusion‐tensor‐based axonal tracking (2002) (591)
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. (1997) (438)
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders (1995) (431)
Dendritic Anomalies in Disorders Associated with Mental Retardation (2000) (419)
A unified nomenclature for peroxisome biogenesis factors (1996) (417)
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (1997) (411)
Dendritic anomalies in disorders associated with mental retardation. (1999) (392)
Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids (1981) (373)
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. (1984) (334)
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. (2004) (327)
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening (2001) (311)
Peroxisome biogenesis disorders. (2006) (301)
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls (1999) (295)
X-linked adrenoleukodystrophy (1999) (284)
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) (282)
Adrenoleukodystrophy: a scoring method for brain MR observations. (1994) (277)
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. (1981) (267)
A mouse model for X-linked adrenoleukodystrophy. (1997) (255)
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. (1984) (241)
Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy (1984) (241)
The Inflammatory Myelinopathy of Adreno‐Leukodystrophy: Cells, Effector Molecules, and Pathogenetic Implications (1992) (235)
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome (1992) (228)
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy (2003) (224)
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. (2005) (219)
Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention (2004) (216)
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders (1997) (215)
Adrenoleukodystrophy: Impaired Oxidation of Very Long Chain Fatty Acids in White Blood Cells, Cultured Skin Fibroblasts, and Amniocytes (1984) (214)
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (1996) (207)
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. (1986) (197)
Neuroanatomy of Rett syndrome: A volumetric imaging study (1993) (195)
Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis (1998) (194)
Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy (2001) (191)
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts (1980) (183)
Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. (1995) (179)
Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis) (1972) (179)
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy (2000) (171)
X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. (2000) (170)
Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. (1975) (169)
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. (1964) (164)
Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. (1984) (160)
The manifesting carrier in Duchenne muscular dystrophy (1974) (155)
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. (1982) (153)
Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study (2007) (153)
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders (1997) (145)
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. (1985) (144)
Metabolic control of peroxisome abundance. (1999) (141)
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. (1969) (139)
Rett syndrome--natural history in 70 cases. (1986) (131)
Altered expression of ALDP in X-linked adrenoleukodystrophy. (1995) (128)
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype (2002) (127)
Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex. (1981) (125)
Adrenoleukodystrophy: new approaches to a neurodegenerative disease. (2005) (125)
Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. (2002) (124)
MR findings in adult-onset adrenoleukodystrophy. (1995) (124)
Adreno-leukodystrophy: Oxidative Stress of Mice and Men (2005) (123)
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. (2005) (123)
Multislice proton magnetic resonance spectroscopic imaging in X‐linked adrenoleukodystrophy (1994) (122)
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. (1998) (122)
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. (1991) (121)
Modification of the schedule of myelination in the rat by early nutritional deprivation. (1966) (116)
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. (1995) (115)
A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients (1987) (114)
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. (1999) (113)
X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. (2000) (106)
Mutational analysis of patients with X‐linked adrenoleukodystrophy (1995) (105)
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. (1993) (105)
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. (2004) (104)
PEX12, the Pathogenic Gene of Group III Zellweger Syndrome: cDNA Cloning by Functional Complementation on a CHO Cell Mutant, Patient Analysis, and Characterization of Pex12p (1998) (103)
Potential Environmental and Host Participants in the Early White Matter Lesion of Adreno‐Leukodystrophy: Morphologic Evidence for CD8 Cytotoxic T Cells, Cytolysis of Oligodendrocytes, and CD1‐Mediated Lipid Antigen Presentation (2001) (101)
Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy (1985) (100)
Identification of female carriers of adrenoleukodystrophy. (1983) (99)
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. (2001) (99)
Lorenzo's oil. (1993) (97)
Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy (2002) (95)
Bone marrow transplant in adrenoleukodystrophy (1984) (95)
Adrenoleukodystrophy: Phenotypic variability and implications for therapy (1992) (94)
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. (2006) (94)
Preliminary observations on the occurrence of cholesterol sulfate in man. (1966) (93)
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. (1999) (92)
Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients (1989) (91)
Progress in X-linked adrenoleukodystrophy (2004) (91)
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. (1978) (90)
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females. (1982) (89)
Solubilization and partial purification of steroid sulfatase from rat liver: characterization of estrone sulfatase. (1976) (89)
Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. (1998) (88)
Linkage of adrenoleukodystrophy to a polymorphic DNA probe (1987) (87)
Genotype-phenotype correlations in disorders of peroxisome biogenesis. (1999) (84)
Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders (1999) (84)
Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy (2001) (83)
The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria (2001) (82)
Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. (1980) (79)
The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland (1982) (79)
Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination (1992) (79)
Cataplexy in variant forms of Niemann‐Pick disease (1982) (78)
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. (1996) (78)
Branched-chain and odd-numbered fatty acids and aldehydes in the nervous system of a patient with deranged vitamin B 12 metabolism. (1973) (77)
Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies (1995) (75)
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. (2003) (75)
Neuroimaging studies in Rett syndrome (2001) (75)
Stimulation of acid ceramidase activity by saposin D. (1994) (75)
Late-onset metachromatic leukodystrophy (2006) (73)
Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. (2001) (72)
BRAIN LIPIDS, PROTEOLIPIDS, AND FREE AMINO ACIDS IN MAPLE SYRUP URINE DISEASE * (1966) (72)
Altered neurochemical markers in Rett's syndrome (1991) (71)
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (1976) (69)
MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy (2003) (68)
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (2002) (67)
Cholesterol sulfate in rat tissues. Tissue distribution, developmental change and brain subcellular localization. (1976) (67)
Studies on the biosynthesis of glycolipides and other lipides of the brain. (1959) (67)
“Lorenzo’s Oil” Therapy for X-linked Adrenoleukodystrophy: Rationale and Current Assessment of Efficacy (2007) (67)
Analysis and quantitation of free ceramide containing nonhydroxy and 2-hydroxy fatty acids, and phytosphingosine by high-performance liquid chromatography. (1979) (65)
High performance liquid chromatography of ceramides: application to analysis in human tissues and demonstration of ceramide excess in Farber's disease. (1974) (64)
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. (1969) (64)
Aberrant sleep patterns in children with the rett syndrome (1990) (63)
Nerve conduction studies in adrenomyeloneuropathy. (1996) (62)
Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations. (1994) (62)
Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment* (2001) (62)
Therapy of X-linked adrenoleukodystrophy (2006) (60)
Development of myelin in inherited disorders of amino acid metabolism. (1968) (59)
Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. (1982) (59)
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (1967) (59)
Non‐infantile neuronopathic Gaucher's disease (1983) (58)
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders (2009) (58)
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells (1995) (58)
Very long chain fatty acid oxidation in rat liver. (1981) (57)
A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases. (1985) (57)
Phenotypic variability in siblings with Farber disease. (1984) (57)
Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. (1985) (56)
Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy (2005) (55)
Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials. (2003) (55)
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency (2001) (54)
Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's Oil) (1994) (53)
X‐linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes (2005) (53)
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency (2011) (52)
Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression. (1988) (52)
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. (1993) (52)
Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: Application to Adrenomyeloneuropathy (2009) (51)
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. (1985) (50)
Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. (1984) (50)
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. (2007) (50)
Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts. (1981) (49)
Behavioral treatment of sleep dysfunction in patients with the rett syndrome (1991) (49)
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. (1983) (49)
Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy. (1995) (49)
Ceramidase deficiency: Farber's lipogranulomatosis (1983) (49)
Neurochemical alterations in Rett syndrome. (1993) (48)
Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. (1977) (48)
Peroxisome assembly mutations in humans: Structural heterogeneity in Zellweger syndrome (1992) (48)
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells (1999) (48)
Visual evoked potentials in adrenolukodystrophy: A trial with glycerol trioleate and Lorenzo oil (1993) (47)
STEROID SULFATASE IN BRAIN: COMPARISON OF SULFOHYDROLASE ACTIVITIES FOR VARIOUS STEROID SULFATES IN NORMAL AND PATHOLOGICAL BRAINS, INCLUDING THE VARIOUS FORMS OF METACHROMATIC LEUKODYSTROPHY (1976) (47)
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. (2000) (46)
Normal cholesterol synthesis in human cells requires functional peroxisomes. (1991) (46)
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. (1999) (46)
Neuronal migration abnormality in peroxisomal bifunctional enzyme defect (1996) (46)
Structural and Chemical Alterations in the Cerebral Maldevelopment of Fetal Cerebro‐Hepato-Renal (Zellweger) Syndrome (1989) (46)
Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome). (1986) (46)
Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. (1983) (46)
Solvent Vapor Abuse Leukoencephalopathy. Comparison to Adrenoleukodystrophy (1994) (45)
Hyperuricemia in Down's syndrome. (1968) (45)
Tumor necrosis factor-α and X-linked adrenoleukodystrophy (1995) (45)
New approaches in peroxisomal disorders. (1987) (44)
Spectroscopic evidence of cerebral axonopathy in patients with “pure” adrenomyeloneuropathy (2005) (44)
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. (1980) (43)
Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage. (1991) (42)
Neonatal seizures and retardation in a girl with biochemical features of X‐linked adrenoleukodystrophy (1988) (42)
A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis. (1997) (42)
Myelin Membrane from Adrenoleukodystrophy Brain White Matter—Biochemical Properties (1983) (42)
Neurodystrophies and neurolipidoses (1996) (42)
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (1976) (41)
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts (2009) (41)
Human acid ceramidase gene: novel mutations in Farber disease. (2000) (40)
Peroxisomal Disorders: Overview (1996) (40)
A question of culture (1995) (40)
Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis. (1982) (40)
Progressive cavitating leukoencephalopathy: A novel childhood disease (2005) (40)
Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. (1983) (39)
Regular exercise and subclinical myocardial injury during prolonged aerobic exercise. (1999) (39)
Mutations in the Peroxin Pex26p Responsible for Peroxisome Biogenesis Disorders of Complementation Group 8 Impair Its Stability, Peroxisomal Localization, and Interaction with the Pex1p·Pex6p Complex* (2006) (39)
Peroxisomal L-Pipecolic Acid Oxidation Is Deficient in Liver from Zellweger Syndrome Patients (1989) (39)
The design of a diet restricted in saturated very long-chain fatty acids: therapeutic application in adrenoleukodystrophy. (1984) (39)
Frequent alterations of visual pigment genes in adrenoleukodystrophy. (1988) (38)
The peroxisome deficient PEX2 zellweger mouse (2001) (38)
Early manifestations of multiple sulfatase deficiency. (1984) (38)
PRENATAL DIAGNOSIS OF FARBER'S DISEASE (1979) (38)
Dietary management of X-linked adrenoleukodystrophy. (1995) (38)
Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy (1981) (38)
Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion. (1993) (37)
Specific tritium labeling of cerebrosides at the 3-positions of erythro-sphingosine and threo-sphingosine. (1975) (37)
Quantitative magnetic resonance imaging in Rett syndrome. (1991) (36)
Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes. (1992) (36)
Ceramide and Ganglioside Accumulation in Farber's Lipogranulomatosis.∗ (1967) (36)
Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy (2005) (36)
The adrenoleukodystrophies. (1987) (36)
Molecular genetics of peroxisomal disorders. (1998) (36)
Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction (1986) (35)
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. (1984) (35)
Determination of 30 X‐linked adrenoleukodystrophy mutations, including 15 not previously described (2000) (35)
Serum autoantibody responses to myelin oligodendrocyte glycoprotein and myelin basic protein in X-linked adrenoleukodystrophy and multiple sclerosis (2001) (35)
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion. (1998) (35)
Proton MR Spectroscopic Imaging in Pelizaeus-Merzbacher Disease (2003) (34)
Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study. (1988) (34)
Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter. (1997) (34)
3-Ketosphingolipids: application to the determination of sphingolipids which contain 4-sphingenine. (1975) (33)
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor‐2) gene in patients with peroxisome biogenesis disorders (1999) (33)
Peroxisomal diseases. (1993) (32)
Lorenzo oil therapy for adrenoleukodystrophy: A prematurely amplified hope (1993) (32)
Leukodystrophies: Pathogenesis, Diagnosis, Strategies, Therapies, and Future Research Directions (2003) (32)
Phenotype of adult Refsum disease due to a defect in peroxin 7 (2007) (31)
Value of neuroimaging in metabolic diseases affecting the CNS. (1991) (31)
Incomplete trisomy 22 (1981) (31)
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (1993) (31)
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. (1987) (31)
Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. (2006) (30)
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6 (2001) (30)
Recovery From Probable Central Pontine Myelinolysis Associated With Addison's Disease (1983) (29)
Anti-Ganglioside Antibodies Bind with Enhanced Affinity to Gangliosides Containing Very Long Chain Fatty Acids (2002) (29)
Improved tissue characterization in adrenoleukodystrophy using magnetization transfer imaging. (1996) (29)
The prenatal diagnosis of X‐linked adrenoleukodystrophy (1999) (28)
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells (1992) (28)
Nerve conduction studies in the Twitcher mouse (murine globoid cell leukodystrophy) (1986) (27)
A case of combined Farber and Sandhoff disease (1989) (27)
X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics. (1999) (27)
Human and great ape red blood cells differ in plasmalogen levels and composition (2011) (27)
Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography. (1975) (26)
Sensorimotor function and axonal integrity in adrenomyeloneuropathy. (2006) (26)
Pathologic findings in adrenoleukodystrophy heterozygotes. (1987) (26)
Elevated plasma adrenocorticotropin concentration as evidence of limited adrenocortical reserve in patients with adrenomyeloneuropathy. (1994) (26)
Visual system abnormalities in adrenomyeloneuropathy (1995) (26)
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome. (1986) (26)
Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. (1990) (26)
Nerve lipid abnormalities in human diabetic neuropathy: A correlative study (1979) (26)
The peroxisome (1988) (25)
Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy (1996) (25)
Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions (2010) (25)
The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens (1985) (25)
Farber's disease. Light and electron microscopic study of the eye. (1985) (25)
Brain glucose metabolism in Rett Syndrome. (2002) (24)
The nosology of mental retardation: including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School. (1971) (24)
A role for gene therapy in mental retardation (1995) (24)
New approaches to therapy (2007) (24)
CHANGES IN THE AMINO ACID COMPOSITION OF PROTEOLIPIDS OF WHITE MATTER DURING MATURATION OF THE HUMAN NERVOUS SYSTEM * (1967) (24)
The Rett syndrome: Progress report on studies at the Kennedy institute (1990) (24)
The 22-kD Peroxisomal Integral Membrane Protein in Zellweger Syndrome—Presence, Abundance, and Association with a Peroxisomal Thiolase Precursor Protein (1991) (24)
Adrenoleukodystrophy (ALD): clinical and CT features of a childhood variant. (1983) (23)
Farber disease: pathologic diagnosis in sibs with phenotypic variability. (1987) (23)
Rett syndrome: New observations (1987) (23)
Uniparental origin of sex chromosome polysomies. (1992) (23)
Prenatal diagnosis of rhizomelic chondrodysplasia punctata (1988) (23)
Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies. (1985) (23)
Familial X‐linked Addison disease as an expression of adrenoleukodystrophy (ALD) (1982) (23)
Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide. (1974) (23)
Brain uptake and utilization of fatty acids (2001) (22)
Acute bilateral internal carotid artery occlusion (1964) (22)
Myopathy in an infant with a fatal peroxisomal disorder. (1986) (22)
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. (1980) (22)
Adrenoleukodystrophy: unusual computed tomographic appearance. (1982) (22)
Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion (2002) (22)
Reverse Phase High‐Performance Liquid Chromatography of Cerebrosides, Sulfatides and Ceramides: Microanalysis of Homolog Composition Without Hydrolysis and Application to Cerebroside Analysis in Peripheral Nerves of Adrenoleukodystrophy Patients (1980) (22)
Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders (2007) (21)
Rett syndrome--observational study of 33 families. (1986) (21)
Phenotypic and genotypic variability of generalized peroxisomal disorders. (1988) (21)
Adrenoleukodystrophy: Molecular Genetics, Pathology, and Lorenzo's oil (1995) (21)
Adrenoleukodystrophy: natural history, treatment and outcome (1995) (21)
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. (1991) (21)
X‐linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis (1995) (20)
Color vision defects in adrenomyeloneuropathy. (1989) (20)
The red-green visual pigment gene region in adrenoleukodystrophy. (1990) (20)
Adrenoleukodystrophy update: Genetics and effect of Lorenzo's oil therapy in asymptomatic patients (1994) (20)
Estimation of the phospholipid phosphorus turnover time in man: studies in normal individuals, in patients with the nephrotic syndrome and in other types of hyperlipemia. (1955) (20)
The dynamics of a lipidosis. Turnover of sulfatide, steroid sulfate, and polysaccharide sulfate in metachromatic leukodystrophy. (1967) (20)
Properties of acid ceramidase from human spleen. (1989) (20)
Endoneurial lipid composition of normal human sural nerve (1979) (19)
Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis (1988) (19)
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. (1980) (19)
The prenatal diagnosis of the cerebro‐hepato‐renal syndrome of Zellweger (1985) (19)
Neonatal adrenoleukodystrophy Impaired plasmalogen biosynthesis and peroxisomal β-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts (1987) (18)
Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates (1989) (18)
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism (1999) (18)
Adrenoleukodystrophy: From Bedside to Molecular Biology (1987) (18)
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects (2004) (18)
Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy. (1986) (18)
Improved thin-layer chromatographic method in the diagnosis of mannosidosis. (1978) (18)
Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytes (1976) (18)
A human-murine chimera model for in utero human hematopoietic stem cell transplantation. (1999) (18)
Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy. (1993) (17)
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. (1998) (17)
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred. (1982) (17)
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata (1997) (17)
CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity. (1994) (17)
Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger Syndrome: A confocal laser scanning microscopy study (2000) (16)
Abnormal myelination in a patient with deletion 14q11.2q13.1. (2000) (16)
Plasma exchange removes glycosphingolipid in Fabry disease. (1980) (16)
Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. (1995) (16)
Application of "high-performance" liquid chromatography to the study of sphingolipidoses. (1980) (16)
Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome (2004) (16)
Cognitive impairment in adult-onset adrenoleukodystrophy. (1990) (16)
Brain uptake and utilization of fatty acids (2007) (16)
Magnetic resonance spectroscopy (2005) (15)
Infusion of normal HL-A identical leukocytes in Sanfilippo disease type B. Estimate of infused cell survival by assays of alpha-N-acetylglucosaminidase activity and cytogenetic techniques: effect on glycosaminoglycan excretion in the urine. (1974) (15)
Evaluation of Therapy of X-Linked Adrenoleukodystrophy (2004) (15)
Arachidonic acid metabolism in fibroblasts from patients with peroxisomal diseases: response to interleukin 1. (1990) (15)
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy (1988) (15)
Impaired Cerebroside Sulfate Hydrolysis in Fibroblasts of Sibs with “Pseudo” Arylsulfatase A Deficiency without Metachromatic Leukodystrophy (1983) (14)
Adrenoleukodystrophy (1981) (14)
Familial spastic paraparesis (1985) (14)
Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot. (1988) (14)
Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients. (2004) (14)
Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. (1992) (14)
ABNORMALITIES OF SERUM GAMMA 1A GLOBULIN AND ATAXIA TELANGIECTASIA (1964) (14)
Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy (2015) (14)
Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes. (1999) (14)
Farber disease with prolonged survival (1993) (13)
Genetic Causes of Mental Retardation (2004) (13)
B. Evaluation techniques (1999) (13)
Auditory Brainstem Response and Audiologic Findings in Adrenoleukodystrophy: Its Variant and Carrier (1988) (13)
Liver Glycolipids, Steroid Sulfates and Steroid Sulfatases in a Form of Metachromatic Leukodystrophy Associated with Multiple Sulfatase Deficiencies (1972) (13)
Research on Rett Syndrome: Strategy and Preliminar Results (1988) (13)
Peripheral nerve involvement in Krabbe disease (2006) (12)
STRUCTURAL STUDIES ON SULPHATIDES IN METACHROMATIC LEUCODYSTROPHY (1966) (12)
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593 (1997) (12)
Direct quantitation of glycosaminoglycans in 2 mL of urine from patients with mucopolysaccharidoses. (1981) (12)
Somatosensory evoked potentials in adrenomyeloneuropathy (1997) (11)
Is exercise-induced myocardial injury self-abating? (2001) (11)
Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening. (2007) (11)
: Increased plasma content of saturated very long chain fatty acids (2006) (11)
New insights about hematopoietic stem cell transplantation in adrenoleukodystrophy. (2007) (11)
Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease. (1995) (11)
Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome. (1995) (10)
EFFECTS OF BIS‐(MONOISOPROPYLAMINO)‐FLUOROPHOSPHINE OXIDE (MIPAFOX) AND OF STARVATION ON THE LIPIDS IN THE NERVOUS SYSTEM OF THE HEN * (1967) (10)
Therapy of X-linked adrenoleukodystrophy: Prognosis based upon age and MRI abnormality and plans for placebo-controlled trials (2000) (10)
Adrenoleukodystrophy: Biochemical procedures in diagnosis, prevention and treatment (1987) (10)
Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder. (1987) (10)
Therapy of X-linked adrenoleukodystrophy (2006) (10)
Life expectancy in rhizomelic chondrodysplasia punctata (1996) (10)
The Chemical Pathology of Krabbe Disease and Metachromatic Leucodystrophy1 (1962) (9)
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. (2002) (9)
Cytosolic compartmentalization of hepatic alanine: Glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism (1994) (9)
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency (1999) (9)
Preamble to the workshop on rett syndrome (1986) (9)
Cherry red spot in association with galactosylceramide-β-galactosidase deficiency (1987) (9)
Cerebrotendinous Xanthomatosis: A Clinicopathological Biochemical and Metabolic Study (1970) (9)
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome (2004) (9)
Genetic peroxisomal disorders: Why, when, and how to test (1998) (9)
Improvement of clinical and MM findings in a boy with adrenoleukodystrophy by dietary erucic acid therapy (1992) (8)
Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria (1969) (8)
Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters. (1971) (8)
Studies on the biosynthesis of cerebroside galactose (1958) (8)
Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study. (1982) (8)
Sulfate metabolism in metachromatic leukodystrophy. (1964) (8)
Analysis of Peroxisomes in Lymphoblasts: Zellweger Syndrome and a Patient with a Deletion in Chromosome 7 (1993) (7)
Allogeneic bone marrow transplantation in adrenoleukodystrophy: clinical, pathologic, and biochemical studies. (1986) (7)
Alexander disease: Combined gene analysis and MRI clarify pathogenesis and extend phenotype (2005) (7)
Suspended judgment. Reactions to the motion picture "Lorenzo's Oil". (1994) (7)
Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease (1973) (7)
Auditory function in adrenomyeloneuropathy (2008) (7)
HUMAN DIABETIC NEUROPATHY: A MORPHOMETRICAL AND NEURO-CHEMICAL STUDY (1976) (7)
The pathogenesis and treatment of copper deficiency in steely-hair syndrome. (1975) (6)
A novel insert mutation in γ-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy (2002) (6)
Hypergonadotropic hypogonadism in two sisters with galactosaemia. (1984) (6)
Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment (2003) (6)
Neurometabolic disease. (1998) (6)
The biochemical defect in Farber's disease. (1976) (6)
T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging. (2001) (6)
A sibship with a mild variant of Zellweger syndrome (1987) (6)
Peroxisomal disorders. (1991) (6)
Urinary bile acids and peroxisomal bifunctional enzyme deficiency. (1996) (6)
Where has all the white matter gone? (2004) (6)
The peroxisomal disorders. (1985) (6)
Infantile Refsum disease. (1991) (5)
Prevention of Mental Retardation (Genetics) (1992) (5)
Successful immunocytochemical localization of myelin components in paraffin sections of human nervous tissue with preliminary observations on multiple sclerosis and metachromatic leukodystrophy lesions. (1978) (5)
Pathogenetic mechanisms in peroxisomal disorders (1996) (5)
Peroxisomal disorders. (1994) (5)
Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy. (1987) (5)
1167 ADRENOLEUKODYSTROPHY: ABOVE NORMAL LEVELS OF VERY LONG CHAIN FATTY ACIDS IN PLASMA (1981) (5)
Excess C-26 fatty acid in cultured skin fibroblasts from adrenoleukodystrophy and adrenomyeloneuropathy patients. (1978) (5)
Peroxisomal disorders. (1985) (4)
Observations About the Phenotype of Peroxisomal Disorders (1987) (4)
New sites of ocular involvement in late-infantile metachromatic leukodystrophy revealed by histopathologic studies (1993) (4)
[Peroxisomal disorders: classification and overview of biochemical abnormalities]. (1999) (4)
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. 1981. (1998) (4)
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy* Dedicated to the memory of Peter Moser (1997) (4)
Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision. (1993) (4)
Peroxisomal disorders. Molecular defects, genotype-phenotype correlations and therapy. (1999) (3)
Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. (1968) (3)
Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. (1993) (3)
Effects of subperineurial injections of very-long-chain and medium-chain fatty acids into rat sciatic nerve. (1986) (3)
87 FETAL CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME: NEUROPATHOLOGIC FINDINGS RELEVANT TO THE CEREBRAL MALFORMATION (1984) (3)
ADRENOLEUKODYSTROPHY (ALD) WITH TRANSIENT AMAUROSIS WITHOUT CLINICAL DEGENERATION, A DISEASE VARIANT OR THIRD ALLELE (1984) (3)
Medium chain dicarboxylic and hydroxydicarboxylic aciduria in a case of neonatal adrenoleukodystrophy (1987) (3)
Pre- and postnatal diagnosis of the cerebrohepato-renal (Zellweger) syndrome via a simple method directly demonstrating the presence of absence of peroxisomes in cultured skin fibroblasts, amniocytes or chorionic villi fibroblasts (1986) (3)
Treatment of X-linked adrenoleukodystrophy with Lorenzo’s oil (1999) (3)
Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy (2006) (3)
CYTOKINES AND INFLAMMATORY DEMYELINATIVE LESIONS IN ADRENOLEUKODYSTROPHY AND MULTIPLE SCLEROSIS (1993) (3)
Adrenoleukodystrophy and Zellweger syndrome. (1990) (3)
THE DORSAL ROOT GANGLIA IN ADRENOMYELO-NEUROPATHY (AMN) (1999) (3)
Lipogranulomatosis (Farber disease) (1978) (3)
Gene therapy in neurology. (1994) (2)
One-step multiplex PCR strategy for identification of mutations by SSCP and DNA sequencing. (2000) (2)
CEREBELLAR DEGENERATION IN PEROXISOMAL DISORDERS (1997) (2)
THE MYELOPATHY OF ADRENOMYELONEUROPATHY (AMN) (1993) (2)
A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1). (1992) (2)
Lipid biosynthesis by peripheral and central nervous tissue as a function of age. (1959) (2)
23rd ENMC Workshop on Rare Neuromuscular Diseases 4–6 June, Baarn, The Netherlands (1994) (2)
Netherlands Ophthalmological Society, Lustrum Congress 75th Anniversary (1970) (2)
Adrenoleukodystrophy in Israel: a genetic, clinical and biochemical study. (1984) (2)
1590 DEMYELINATION IN PELIZAEUS-MERZBACHER DISEASE (1981) (2)
X-linked adrenoleukodystrophy: Epidemiology, pathogenesis and therapy (1990) (2)
Functional Studies of the X‐linked Adrenoleukodystrophy Protein (1996) (2)
[Adrenomyeloneuropathy, a rare cause of primary adrenal cortex insufficiency]. (2008) (1)
CHAPTER 80 – THE LEUKODYSTROPHIES (2007) (1)
Neuroimaging studies in Rett syndrome q (2001) (1)
Brain uptake and utilization of fatty acids: Applications to peroxisomal biogenesis disorders (An International Workshop): Roundtable discussion of session 4: The roles of DHA in Zellweger syndrome, a representative peroxisomal biogenesis disorder (2001) (1)
A new inborn lysosomal disease. (1970) (1)
Value of C26:0 fatty acid determination for the diagnosis of atypical adrenoleukodystrophy (1982) (1)
Multiple sulfatase deficencies, the enzymatic basis of a new disorder (1971) (1)
Hematopoietic Cell Transplantation in Murine Globoid Cell Leukodystrophy (The Twitcher Mouse)—A Model of a Human Sphingolipidosis (Krabbe Disease) (1988) (1)
Is early development normal in Rett syndrome (1994) (1)
The pathophysiology of peripheral neuropathy in mouse (twitcher) globoid cell leukodystrophy (1985) (1)
Ataxia-telangiectasia and the thymus. (1964) (1)
Adrenoleukodystrophy (1984) (1)
[Biochemical, histological and clinical findings in a four-year-old female carrier of benign X-linked muscular dystrophy (Becker type)]. (1971) (1)
[The peroxisome: structure, function and biogenesis]. (1999) (1)
Adrenoleukodystrophy (1998) (1)
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases. (1979) (1)
gateway the newsletter of the snm molecular imaging center of excellence (2008) (1)
REVIEW ARTICLE Stem Cell-Based Therapies for Spinal Cord Injury (2009) (1)
Therapy of peroxisomal disorders. (1992) (1)
Note on Rett syndrome symposium (1985) (1)
Chapter 52 – Peroxisomal Disorders (1999) (1)
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. (1976) (1)
AMNIOTIC EPITHELIAL CELL IMPLANTATION (AECI) IN LYSOSOMAL STORAGE DISEASES (1984) (1)
Expression of ALDP Is Altered in X‐linked Adrenoleukodystrophy (1996) (1)
ULTRASTRUCTURAL EVIDENCE FOR A GLIOPATHY IN CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME: 196 (1989) (1)
Commentary (1998) (0)
Admission clinical characteristics associated with thrombolytic treatment in aortic dissection related ischaemic stroke (2015) (0)
Table of Contents (1996) (0)
Adrenoleuko‐dystrophy (ALD) (1983) (0)
Disease of the vanishing white matter (1997) (0)
Churg Strauss Syndrome associated with asymmetric neuropathy and multiple effusions (2010) (0)
[Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy]. (1999) (0)
Evaluation of the metabolic defect in metachromatic leukodystrophy (MLD). (1967) (0)
Familial X-linked Addison's disease (AD) without neurological symptoms as an expression of adrenoleukodystrophy (ALD) (1984) (0)
A digital imaging network to facilitate a multi-center clinical trial for adrenoleukodystrophy (2002) (0)
Neuropathies with Deranged Metabolism (1985) (0)
CompoundHeterozygosity forMetachromatic Leukodystrophy andArylsulfatase A Pseudodeficiency Alleles IsNotAssociated withProgressive Neurological Disease (1993) (0)
ADRENOLEUKODYSTROPHY: THE ORIGIN OF ABNORMAL FATTY ACIDS DETERMINED BY ISOTOPE INCORPORATION IN PLASMA AND TISSUES. (1982) (0)
Docosahexaenoic Acid Therapy for Disorders of Peroxisome Biogenesis (2001) (0)
Chapter 18 Lessons for peroxisome biogenesis from fluorescence analyses of Zellweger syndrome fibroblasts (1992) (0)
ImprovedThin-LayerChromatographicMethodin the Diagnosisof Mannosidosis (2004) (0)
30 LIPID ANALYSIS OP MYELIN PROM ADRENOLEUKODYSTROPHY BRAIN (1981) (0)
A. Update of therapies (1999) (0)
New concepts in the diagnosis and treatment of lysosomal and peroxisomal disorders. (1992) (0)
Study of peroxisomal proteins in patients with zellweger syndrome (1990) (0)
LORENZO'S OIL WITH DIET THERAPY DOES NOT AFFECT THE GROWTH OF ASYMPTOMATIC ALD BOYS (2006) (0)
Organization of Services for the Mentally Retarded (WHO Technical Report Series No. 392) (1969) (0)
Defective metabolism of lipids in nervous tissue. (1962) (0)
Adre nole ukody strop hy (1985) (0)
Peroxisomal disorders. (1986) (0)
Peroxisomes and Pediatric Neurological Diseases1 (1992) (0)
Measurement of plasma very long chain fattyacids (LCFA) in children with Addison's disease (AD) (1984) (0)
Antiepileptic medication for persons with mental retardation. (1989) (0)
Deficiency of Peroxisomal Acyl CoA Oxidase Associated with Severe Neonatal Seizure Disorder (1987) (0)
Book ReviewMental Retardation: A review of research. (1965) (0)
Application of “ High-Performance ” LiquidChromatographyto the Study of Sphingolipidoses (2004) (0)
Peroxisomal disorders. (1991) (0)
Long Chain Fatty Acids and Peroxisomal Disorders (2006) (0)
Recovery from probably central pontine myelinolysis associated with Addison's disease. (1983) (0)
72 OCULAR HISTOCHEMICAL/HISTOPATHOLOGICAL STUDIES OF CEREBRO-HEPATO-RENAL SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY (1983) (0)
The MRI suggests a leukodystrophy, but tests are negative--what should we do? Probing white-matter disorders. Conference proceedings. May 7-9, 1994. De Kalb, Illinois. (1996) (0)
ANNUAL DISABILITY PROGRESSION IN PURE ADRENOMYELONEUROPATHY PATIENTS (2006) (0)
Therapy of Genetically Determined Metabolic Disorders (1992) (0)
Multicenter clinical trial using next-generation Internet technology (2001) (0)
Genetic complementation analysis is peroxisomal disorders (1989) (0)
Adrenoleukodystrophy (1982) (0)
Quantitative analysis of magnetic resonance imaging in retts syndrome (1989) (0)
10. Mental Retardation (1977) (0)
B. Other leukodystrophies (1999) (0)
Figure 3, [MRI of a patient with...]. (2015) (0)
Table 2, Phenotypes in female X-ALD carriers (2015) (0)
[Genetic family counseling. Ethical viewpoints]. (1983) (0)
THERAPY OF LEUKODYSTROPHIES (2006) (0)
Grundlagen der DNA-Diagnostik (1990) (0)
[Monogenic inheritance: nervous system and neuromuscular diseases]. (1986) (0)
Spinal Cord MT Imaging Correlates with Somatosensory Evoked Potentials in Adrenomyeloneuropathy (2005) (0)
Table 4, [Dietary restrictions in X-ALD. Adopted form ref. 2.]. (2015) (0)
Update Emphasizes Early Diagnosis of Inherited Metabolic Polyneuropathies (2004) (0)
Neonatal Adrenoleukodystrophy: Ultrastructural Variability in Cultured Skin Fibroblasts from Two Skin Biopsies of the Same Case (1988) (0)
Clinical implications of heterozygous galactose-l-phosphate-uridyltransferase deficiency (1978) (0)
Adrenoleukodystrophy: A Scoring .Method for Brain (2013) (0)
[Prenatal diagnosis of metabolic diseases and monogenic hereditary diseases]. (1983) (0)
[Monogenic inheritance: the skin]. (1986) (0)
Figure 1, [The pathogenesis of X-ALD: The...]. (2015) (0)
[Research on heterozygote gene carriers]. (1972) (0)
Recommendations Regarding Handlin of the Necropsy in Rett Syndrome (1988) (0)
[Diagnostic studies in patients and relatives with hereditary neuromuscular diseases]. (1995) (0)
TITLE: MeHG Stimulates Antiapoptotic Signaling in Stem Cells (2010) (0)
Table 1, X-ALD phenotypes in males (2015) (0)
Neurodegenerative Diseases (1997) (0)
Table 3, Conditions in which adrenocortical insufficiency is associated with neurologic dysfunction (2015) (0)
Reply (1994) (0)
Reviewer Acknowledgment (2005) (0)
Chapter 34 – Adrenoleukodystrophies (2004) (0)
Arginnosuccinic aciduria. (1969) (0)
Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: Implications for Pre- and postnatal detection and relationship to X-linked adrenoleukodystrophy (1987) (0)
Book ReviewLysosomes and Storage Diseases. (1974) (0)
273 Prognosis of patients with X-linked adrenoleukodystrophy (X-ALD) who have not received bone marrow transplants (1999) (0)
Peroxisomal disorders. (1990) (0)
A multi-center digital MRI network for adrenoleukodystrophy (ALD) (2000) (0)
Atypical phenylketonuria in a seven-year-old profoundly retarded girl: development of phenylalanine tolerance, in spite of apparently continued failure to convert phenylalanine to tyrosine. (1968) (0)
In vivo Kinetics of Polysaccharides in the Hurler and Sanfilippo Syndromes (1970) (0)
743 PRENATAL IDENTIFICATION OF AN ADRENOLEUKODYSTROPHY HETEROZYGOTE (1981) (0)
Neurocutaneous Disorders: Adrenoleukodystrophy (2004) (0)
Neonatal cholestasis: A new presentation of X-linked adrenoleukodystrophy (2000) (0)
Peroxisomal diseases. (1989) (0)
New defect in peroxisome biogenesis with leukodystrophy, oxaluria, and normal hepatic alanine: Glyoxylate aminotransferase ☆ (1994) (0)
Quantltatlon of Urinary GAGs and Resolution of Dermatan Sulfate from Urine of a Patient with Hunter Syndrome (2004) (0)
BASELINE COGNITIVE PERFORMANCE IN ASYMPTOMATIC BOYS WITH X-ALD WHO LATER DEVELOP CEREBRAL DISEASE (2006) (0)
[Therapeutic strategies for peroxisomal disorders]. (1999) (0)
Dietary restriction of very long chain fatty acids in adreno leuko dystrophy (1982) (0)
Magnetic Resonance Imaging Techniques in X-linked Adrenoleukodystrophy - the Kennedy Krieger Experience (2005) (0)
Peroxisomes: A personal account. (1992) (0)
Abstracts from the Fourth Symposium on Probing Disorders of the White Matter (1999) (0)

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