Ann B. Moser

Q: What Schools Are Affiliated With Ann B. Moser

Ann B. Moser is affiliated with the following schools: University of California, Berkeley, Stanford University, Johns Hopkins University, Massachusetts General Hospital, Radcliffe College

Ann B. Moser's AcademicInfluence.com Rankings

Ann B. Moser

Biology

#13004

World Rank

#16518

Historical Rank

#2667

USA Rank

Biochemistry

#2245

World Rank

#2391

Historical Rank

#308

USA Rank

biology Degrees

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Biology

Ann B. Moser's Degrees

Bachelors Biochemistry University of California, Berkeley
PhD Biochemistry Stanford University

Why Is Ann B. Moser Influential?

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According to Wikipedia, Ann Boody Moser is an American biochemist specializing in neurology. She researches the development of therapies for adrenoleukodystrophy. Moser is an associate professor emerita in neurology at the Johns Hopkins University. She is a research associate in neurology and the co-director of the peroxisomal diseases laboratory at the Kennedy Krieger Institute.

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Ann B. Moser's Published Works

Number of citations in a given year to any of this author's works

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

Probiotics and antibodies to TNF inhibit inflammatory activity and improve nonalcoholic fatty liver disease (2003) (874)
Functions of plasmalogen lipids in health and disease. (2012) (751)
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders (1995) (431)
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (1997) (411)
Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids (1981) (373)
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)
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. (1981) (267)
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up. (2003) (264)
A mouse model for X-linked adrenoleukodystrophy. (1997) (255)
Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy (1998) (245)
The Inflammatory Myelinopathy of Adreno‐Leukodystrophy: Cells, Effector Molecules, and Pathogenetic Implications (1992) (235)
Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome (1999) (226)
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. (1995) (225)
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. (2005) (219)
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. (1997) (218)
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. (1986) (197)
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts (1980) (183)
Peroxisomal bifunctional enzyme deficiency. (1989) (175)
Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses. (2004) (174)
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy (2000) (171)
Myelin basic protein as an encephalitogen in encephalomyelitis and polyneuritis following rabies vaccination. (1987) (169)
Classical maple syrup urine disease and brain development: principles of management and formula design. (2010) (162)
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. (2016) (159)
Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. (2004) (158)
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. (1982) (153)
Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase (2008) (145)
Metabolic control of peroxisome abundance. (1999) (141)
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. (2009) (138)
Is microglial apoptosis an early pathogenic change in cerebral X‐linked adrenoleukodystrophy? (2008) (135)
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)
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. (2003) (127)
Biochemical abnormalities in rhizomelic chondrodysplasia punctata. (1988) (126)
Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex. (1981) (125)
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)
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. (1999) (122)
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. (1991) (121)
Hif-2α promotes degradation of mammalian peroxisomes by selective autophagy. (2014) (117)
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)
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)
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)
Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency (2007) (101)
Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy (1985) (100)
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. (2001) (99)
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. (2015) (97)
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. (1998) (97)
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)
Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients (1989) (91)
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. (1978) (90)
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. (1999) (88)
A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy. (2003) (88)
Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders (1999) (84)
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (2005) (83)
The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria (2001) (82)
Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens (2015) (80)
Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination (1992) (79)
The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland (1982) (79)
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. (2011) (77)
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. (2003) (75)
Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies (1995) (75)
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders (2017) (74)
Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders (1985) (73)
Late-onset metachromatic leukodystrophy (2006) (73)
Newborn Screening for X-Linked Adrenoleukodystrophy (2016) (70)
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (2002) (67)
“Lorenzo’s Oil” Therapy for X-linked Adrenoleukodystrophy: Rationale and Current Assessment of Efficacy (2007) (67)
X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies (2019) (62)
Lipid Status and Long-Chain Polyunsaturated Fatty Acid Concentrations in Adults and Adolescents with Phenylketonuria on Phenylalanine-Restricted Diet (2002) (61)
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders (2000) (60)
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 (2012) (60)
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. (2010) (60)
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)
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)
Brain endothelial dysfunction in cerebral adrenoleukodystrophy. (2015) (56)
Mff functions with Pex11pβ and DLP1 in peroxisomal fission (2013) (56)
Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. (1985) (56)
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports (1990) (54)
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency (2001) (54)
X‐linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes (2005) (53)
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)
Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. (2015) (51)
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. (1985) (50)
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. (2014) (50)
Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts. (1981) (49)
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. (2011) (49)
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. (2015) (49)
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)
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms (2020) (47)
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (2012) (46)
Neuronal migration abnormality in peroxisomal bifunctional enzyme defect (1996) (46)
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. (2000) (46)
Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible. (2014) (46)
Structural and Chemical Alterations in the Cerebral Maldevelopment of Fetal Cerebro‐Hepato-Renal (Zellweger) Syndrome (1989) (46)
Solvent Vapor Abuse Leukoencephalopathy. Comparison to Adrenoleukodystrophy (1994) (45)
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. (2014) (43)
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. (1980) (43)
Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division (2012) (43)
Myelin Membrane from Adrenoleukodystrophy Brain White Matter—Biochemical Properties (1983) (42)
Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage. (1991) (42)
Chronic elevation of phosphocholine containing lipids in mice exposed to Gulf War agents pyridostigmine bromide and permethrin. (2013) (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)
Rhizomelic Chondrodysplasia Punctata Type 1 (2012) (41)
The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage (2007) (41)
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts (2009) (41)
Peroxisomal Disorders: Overview (1996) (40)
Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis. (1982) (40)
Human acid ceramidase gene: novel mutations in Farber disease. (2000) (40)
Alterations in the Plasma Levels of Specific Choline Phospholipids in Alzheimer’s Disease Mimic Accelerated Aging (2018) (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)
Early manifestations of multiple sulfatase deficiency. (1984) (38)
PRENATAL DIAGNOSIS OF FARBER'S DISEASE (1979) (38)
The peroxisome deficient PEX2 zellweger mouse (2001) (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)
Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes. (1992) (36)
X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies (2019) (36)
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. (2012) (36)
α‐Synuclein abnormalities in mouse models of peroxisome biogenesis disorders (2009) (36)
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion. (1998) (35)
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. (2017) (35)
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines (2020) (35)
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. (2017) (34)
Investigational Methods for Peroxisomal Disorders (2008) (33)
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers (2018) (33)
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation. (1993) (31)
Bezafibrate for X-Linked Adrenoleukodystrophy (2012) (31)
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (1993) (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)
Anti-Ganglioside Antibodies Bind with Enhanced Affinity to Gangliosides Containing Very Long Chain Fatty Acids (2002) (29)
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study (2019) (28)
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type (2005) (28)
The prenatal diagnosis of X‐linked adrenoleukodystrophy (1999) (28)
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. (2014) (27)
Human and great ape red blood cells differ in plasmalogen levels and composition (2011) (27)
Pathologic findings in adrenoleukodystrophy heterozygotes. (1987) (26)
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing (2016) (26)
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse (2017) (26)
Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. (1990) (26)
Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions (2010) (25)
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy (2017) (23)
Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion (2002) (22)
Newborn screening for adrenoleukodystrophy: implications for therapy. (2007) (21)
Effect of erucic acid on platelets in patients with adrenoleukodystrophy. (1996) (21)
Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders (2007) (21)
Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy. (2018) (21)
The dynamics of a lipidosis. Turnover of sulfatide, steroid sulfate, and polysaccharide sulfate in metachromatic leukodystrophy. (1967) (20)
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. (1998) (19)
Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis (1988) (19)
Increased levels of ceramide in the retina of a patient with Farber's disease. (1988) (18)
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection (2005) (18)
Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression. (1999) (18)
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells (2013) (17)
Therapeutic strategies in adrenoleukodystrophy (2017) (17)
Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis (1990) (17)
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey (2015) (16)
Polyneuropathy in feline Niemann-Pick disease. (1989) (16)
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe (1985) (16)
Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger Syndrome: A confocal laser scanning microscopy study (2000) (16)
Plasma exchange removes glycosphingolipid in Fabry disease. (1980) (16)
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India (2010) (15)
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. (2020) (14)
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study (2014) (14)
Adrenoleukodystrophy (1981) (14)
Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts (1986) (14)
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities (2015) (13)
A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern (2013) (13)
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593 (1997) (12)
Newborn Screening for Adrenoleukodystrophy (2012) (12)
Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate (2015) (11)
: Increased plasma content of saturated very long chain fatty acids (2006) (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)
Life expectancy in rhizomelic chondrodysplasia punctata (1996) (10)
Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers (2014) (9)
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency (1999) (9)
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome (2004) (9)
Red blood cell fatty acid analysis for determining compliance with omega3 supplements in dry eye disease trials. (2013) (8)
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. (2016) (7)
Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity. (2014) (7)
Erratum: Abnormal sterol metabolism in patients with Conradi-Hunermann- Happle syndrome and sporadic lethal chondrodysplasia punctata (American Journal of Medical Genetics (1999) 83 (213-219)) (1999) (7)
Analysis of Peroxisomes in Lymphoblasts: Zellweger Syndrome and a Patient with a Deletion in Chromosome 7 (1993) (7)
Urinary bile acids and peroxisomal bifunctional enzyme deficiency. (1996) (6)
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome (2013) (6)
A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1 (2022) (5)
Familial risk for bipolar disorder is not associated with impaired peroxisomal function: Dissociation from docosahexaenoic acid deficits (2016) (5)
Influence of long chain polyunsaturated fatty acids and ornithine concentrations on complications after renal transplant. (2008) (5)
Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy (2022) (5)
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. (1993) (5)
Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease (2018) (5)
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy (2022) (4)
Observations About the Phenotype of Peroxisomal Disorders (1987) (4)
Human Disorders of Peroxisome Biogenesis: Zellweger Spectrum and Rhizomelic Chondrodysplasia Punctata (2014) (4)
THE DORSAL ROOT GANGLIA IN ADRENOMYELO-NEUROPATHY (AMN) (1999) (3)
Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids (2021) (3)
87 FETAL CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME: NEUROPATHOLOGIC FINDINGS RELEVANT TO THE CEREBRAL MALFORMATION (1984) (3)
Adrenoleukodystrophy and Zellweger syndrome. (1990) (3)
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. (2017) (3)
Effects of subperineurial injections of very-long-chain and medium-chain fatty acids into rat sciatic nerve. (1986) (3)
Newborn Screening for X-Linked Adrenoleukodystrophy on the Horizon (2008) (2)
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future (2022) (2)
Very long-chain acyl-CoA synthetase 3 mediates onco-sphingolipid metabolism in malignant glioma. (2021) (2)
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity (2022) (2)
THE MYELOPATHY OF ADRENOMYELONEUROPATHY (AMN) (1993) (2)
X-linked adrenoleukodystrophy: Epidemiology, pathogenesis and therapy (1990) (2)
CEREBELLAR DEGENERATION IN PEROXISOMAL DISORDERS (1997) (2)
ULTRASTRUCTURAL EVIDENCE FOR A GLIOPATHY IN CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME: 196 (1989) (1)
Corrigendum to "Classical maple syrup urine disease and brain development: Principles of management and formula design" [Mol. Genet. Metab. 99 (2010) 333-345] (2011) (1)
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells (2013) (1)
Dataset for a case report of a homozygous PEX16 F332del mutation (2015) (1)
Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response (2022) (1)
Associations Between Systemic Omega-3 Fatty Acid Levels With Moderate-to-Severe Dry Eye Disease Signs and Symptoms at Baseline in the Dry Eye Assessment and Management Study. (2020) (1)
Adrenoleukodystrophy (1998) (1)
Relationship between medical food type consumption and plasma polyunsaturated fatty acid status of females of childbearing age with phenylketonuria (2007) (1)
Ruminant Fatty Acids and Prostate Cancer Risk in the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (2012) (1)
Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy (2022) (1)
Expression of ALDP Is Altered in X‐linked Adrenoleukodystrophy (1996) (1)
Vitamin D Status & Latitude Predict Brain Lesions in Adrenoleukodystrophy (2021) (1)
Table 2. [Summary of Molecular Genetic Testing...]. (2012) (0)
Abstract 4463: Serum phytanic acid and prostate cancer risk: Results from a nested case-control study (2012) (0)
Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) Gene Produces Dicarboxylic Aciduria and Peroxisome Proliferation • 720 (1998) (0)
Supplementation with DHA (c22:6w3) in four patients suffering from generalized peroxisomal disorders: preliminary results (1995) (0)
225. Phenotypic Correction of ALD Mouse after Hematopoietic Cell Transplantation and Evaluation of Hematopoietic Stem Cell Gene Therapy with a Lentivirus Vector (2004) (0)
Neonatal Adrenoleukodystrophy: Ultrastructural Variability in Cultured Skin Fibroblasts from Two Skin Biopsies of the Same Case (1988) (0)
Adrenoleukodystrophy and Other Peroxisomal Disorders (2017) (0)
A very long-chain acyl-CoA synthetase-deﬁcient mouse and its relevance to X-linked adrenoleukodystrophy (2003) (0)
Screen and identification of small molecules therapies to reduce elevated psychosine levels in globoid-cell leukodystrophy (2016) (0)
ADRENOLEUKODYSTROPHY: THE ORIGIN OF ABNORMAL FATTY ACIDS DETERMINED BY ISOTOPE INCORPORATION IN PLASMA AND TISSUES. (1982) (0)
Abstract 4480: Associations between phytanic acid and alpha-methylacyl-CoA racemase (AMACR) expression in the normal human prostate (2012) (0)
Table 2. [Molecular Genetic Testing Used in X-ALD]. (2015) (0)
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study (2019) (0)
Identification of psychosine-reducing small molecule agents for Krabbe disease (2017) (0)
Evaluation of the metabolic defect in metachromatic leukodystrophy (MLD). (1967) (0)
Table 2. [Plasma Concentration of Phytanic Acid in RCDP1]. (2012) (0)
Table 3. [Testing to Distinguish PBD, ZSS from a Single-Enzyme Deficiency or CADDS]. (2012) (0)
Generalized loss of peroxisomal functions in neonatal adrenoleukodystrophy: Implications for Pre- and postnatal detection and relationship to X-linked adrenoleukodystrophy (1987) (0)
New defect in peroxisome biogenesis with leukodystrophy, oxaluria, and normal hepatic alanine: Glyoxylate aminotransferase ☆ (1994) (0)
Table 4. [Selected PEX7 Pathogenic Variants]. (2012) (0)
CLINICAL SPECTRUM OF PATIENTS WITH RSH/SMITH-LEMLI-OPITZ SYNDROME. •474 (1996) (0)
THE ZELLWEGER-ADRENOLEOKODYSTROPHX SPECTRUM: AN INTERMEDIATE CASE (1993) (0)
Table 1. [Plasma Very Long Chain Fatty Acid (VLCFA) Values in X-ALD]. (2015) (0)
Neonatal cholestasis: A new presentation of X-linked adrenoleukodystrophy (2000) (0)
Table 1. [Specialized Biochemical Testing in PBD, ZSS]. (2012) (0)
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework (2021) (0)
LORENZO'S OIL WITH DIET THERAPY DOES NOT AFFECT THE GROWTH OF ASYMPTOMATIC ALD BOYS (2006) (0)
Issue Highlights. (2016) (0)
Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders. (2023) (0)
Human Bifunctional Enzyme and Its Import into Peroxisomes (1993) (0)
RBC Fatty Acids Analysis for Determining Compliance with Omega-3 Supplements (2011) (0)
Table 4. [Structure of the 12 PEX Genes Associated with PBD, ZSS]. (2012) (0)
Table 7. [Selected PEX26 Pathogenic Allelic Variants]. (2012) (0)
Table 5. [Selected PEX1 Pathogenic Allelic Variants]. (2012) (0)
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities (2015) (0)
and Rhizomelic Chondrodysplasia Punctata 4 (2014) (0)
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers (2018) (0)
72 OCULAR HISTOCHEMICAL/HISTOPATHOLOGICAL STUDIES OF CEREBRO-HEPATO-RENAL SYNDROME AND NEONATAL ADRENOLEUKODYSTROPHY (1983) (0)
390. Impact of rAAV9-ABCD1 Upon Behavioral Outcome in a Mouse Model of X-ALD (2015) (0)
Dietary restriction of very long chain fatty acids in adreno leuko dystrophy (1982) (0)
Vitamin D Status as a Risk Factor for Cerebral Demyelination in X-Linked Adrenoleukdystrophy (S60.005) (2013) (0)
Long Chain Fatty Acids and Peroxisomal Disorders (2006) (0)
Development of a Psychosine Assay to Identify Therapeutic Small Molecules for Krabbe Disease (2012) (0)
Cytokine network during NASH and possible treatment selection (2003) (0)
Genetic complementation analysis is peroxisomal disorders (1989) (0)
30 LIPID ANALYSIS OP MYELIN PROM ADRENOLEUKODYSTROPHY BRAIN (1981) (0)
Bezafibrate for X-ALD (2012) (0)
Table 3. [Selected ABCD1 Pathogenic Variants]. (2015) (0)
Psychosine-reducing molecules as potential therapies for globoid-cell leukodystrophy or Krabbe disease (2020) (0)
[Table, GeneReview Scope]. (2012) (0)
Cytochemical demonstration of peroxisomes in fibroblasts from patients with Zellweger's cerebrohepatorenal syndrome (CHRS) (1985) (0)
Table 1. [Values for Red Blood Cell Plasmalogens (Dimethylacetals) in RCDP1]. (2012) (0)

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