Beat U. Steinmann

Beat U. Steinmann's AcademicInfluence.com Rankings

Beat U. Steinmann

Biology

#11618

World Rank

#15024

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Developmental Biology

#151

World Rank

#159

Historical Rank

Genetics

#1261

World Rank

#1363

Historical Rank

Molecular Biology

#1807

World Rank

#1836

Historical Rank

biology Degrees

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Biology

Beat U. Steinmann's Degrees

PhD Molecular Biology Stanford University

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Beat U. Steinmann'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

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development (2001) (2175)
Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997 (1998) (1531)
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). (1998) (700)
Connective tissue and its heritable disorders —Molecular, genetic and medical aspects (1993) (637)
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database (2003) (288)
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. (1991) (285)
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. (2012) (275)
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. (1994) (260)
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. (1996) (242)
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome (1997) (235)
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. (1992) (233)
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene (1996) (222)
The Ehlers‐Danlos Syndrome (2003) (209)
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. (2008) (192)
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. (1997) (188)
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (2012) (187)
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. (1988) (173)
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. (1979) (155)
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. (1984) (154)
Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature (1998) (154)
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin (2008) (143)
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome (2001) (143)
Mass fragmentography of dopamine and 6-hydroxydopamine. Application to the determination of dopamine in human brain biopsies from the caudate nucleus. (1974) (140)
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 (1993) (139)
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation (1999) (137)
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. (2012) (131)
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. (2002) (131)
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (2009) (126)
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders (2006) (125)
Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy (2007) (124)
Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta. (1994) (123)
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. (1980) (120)
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. (2006) (120)
Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype (2002) (116)
Cardiac and Vascular Hypertrophy in Fabry Disease: Evidence for a New Mechanism Independent of Blood Pressure and Glycosphingolipid Deposition (2006) (114)
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. (1995) (113)
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. (2000) (113)
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI (1992) (109)
Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase. (1996) (107)
New insights into the performance of human whole-exome capture platforms (2015) (106)
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome (2012) (105)
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. (1988) (104)
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. (2002) (101)
Molecular analysis of aldolase B genes in hereditary fructose intolerance (1990) (98)
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. (1996) (91)
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. (1989) (88)
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. (1986) (83)
Acute Aortic Dissection Determines the Fate of Initially Untreated Aortic Segments in Marfan Syndrome (2013) (83)
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. (1990) (82)
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe (2005) (81)
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. (2010) (79)
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome (2007) (78)
Fibrillin and elastin expression in skin regenerating from cultured keratinocyte autografts: morphogenesis of microfibrils begins at the dermo-epidermal junction and precedes elastic fiber formation. (1996) (78)
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene (2002) (78)
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. (1997) (77)
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (1995) (75)
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. (1975) (74)
Disorders of Fructose Metabolism (2000) (73)
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature (2004) (71)
Galactosemia: how does long-term treatment change the outcome? (1984) (71)
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia (1997) (71)
The diagnosis of hereditary fructose intolerance. (1981) (70)
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans. (2003) (69)
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). (2005) (69)
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. (1998) (67)
Molecular nosology of heritable disorders of connective tissue. (1992) (66)
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. (1999) (65)
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. (1991) (65)
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. (2002) (65)
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. (2001) (64)
Ascorbate deficiency results in decreased collagen production: under-hydroxylation of proline leads to increased intracellular degradation. (1983) (61)
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome (1998) (61)
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA) (2005) (61)
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. (1999) (60)
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components (2013) (56)
The structure of human collagen type IX and its organization in fetal and infant cartilage fibrils. (1988) (56)
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. (1991) (56)
Xanthinuria type I: a rare cause of urolithiasis (2007) (55)
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. (1997) (55)
Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. (2005) (54)
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA (2005) (54)
Changes of Liver Metabolite Concentrations in Adults with Disorders of Fructose Metabolism after Intravenous Fructose by 31P Magnetic Resonance Spectroscopy (1994) (53)
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency (2011) (52)
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations (2016) (51)
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide. (1993) (51)
Essential fructosuria, hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency (1983) (51)
Invited Editorial Comment: Osteogenesis Imperfecta: Update and Perspective (1984) (51)
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia (1996) (50)
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. (1978) (50)
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). (1994) (50)
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation (2003) (49)
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene (2005) (48)
Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis (2002) (48)
Prenatal Diagnosis of Collagen Disorders by Direct Biochemical Analysis of Chorionic Villus Biopsies (1994) (47)
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. (1987) (47)
Nonketotic hyperglycinemia (1993) (47)
Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism (1999) (46)
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012 (2012) (45)
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. (1984) (44)
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology. (1979) (44)
Markedly Reduced Activity of Lysyl Oxidase in Skin and Aorta from a Patient with Menkes' Disease Showing Unusually Severe Connective Tissue Manifestations (1990) (44)
Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. (2006) (44)
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency (2016) (43)
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. (1977) (42)
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (1995) (41)
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". (1998) (41)
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? (2000) (40)
Structural aberrations of chromosome 18. I. The 18p-syndrome. (1974) (40)
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. (2008) (40)
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist. (1978) (40)
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. (1991) (39)
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia (1999) (38)
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village (2003) (38)
Severe lymphatic microangiopathy in Fabry disease. (2003) (37)
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. (1973) (37)
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV (1989) (37)
Anaesthesia-induced rhabdomyolysis in Duchenne muscular dystrophy. (1980) (37)
Modulation of type I and type III collagen production in normal and mutant human skin fibroblasts by cell density, prostaglandin E2 and epidermal growth factor. (1982) (36)
Mutations and phenotype in isolated glycerol kinase deficiency. (1996) (36)
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (2007) (36)
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. (2002) (35)
A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans a (1996) (35)
CONGENITAL DOPAMINE BETA-HYDROXYLASE DEFICIENCY (1987) (34)
Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms. (1986) (34)
The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure (2008) (33)
A splicing mutation in the α/β GlcNAc‐1‐phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy (2005) (33)
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland. (1989) (33)
Gly802Asp Substitution in the proα2(I) Collagen Chain in a Family with Recurrent Osteogenesis imperfecta due to Paternal Mosaicism (1996) (33)
Mass Spectrometric Analysis of Human Transferrin in Different Body Fluids (2003) (33)
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule. (1988) (33)
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. (1979) (33)
Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation. (1995) (32)
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo–in vitro (ex vivo) correlation (2002) (31)
Short Communication. Glycogenosis Ib: Neutrophil Microbicidal Defects Due to Impaired Hexose Monophosphate Shunt (1984) (31)
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis (2002) (31)
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. (1989) (30)
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. (1983) (30)
Synthesis and degradation of collagen by skin fibroblasts from controls and from patients with osteogenesis imperfecta (1979) (29)
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis (2016) (29)
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts (2004) (29)
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome. (1994) (29)
Zurich Fabry study – prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA (2012) (29)
Ehlers-Danlos Syndrome, Kyphoscoliotic Form (2013) (28)
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis (1997) (28)
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers‐Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays (2000) (28)
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency (2010) (27)
Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells. (1985) (27)
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen. (1989) (27)
Changes in synthesis of types-I and -III collagen during matrix-induced endochondral bone differentiation in rat. (1980) (27)
Ehlers‐Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management (1998) (27)
Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder (1984) (26)
Folic acid non-dependent formiminoglutamic aciduria in two siblings. (1974) (26)
Osteogenesis imperfecta: update and perspective. (1984) (26)
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. (2019) (25)
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV. (1991) (25)
The Renal Handling of Carnitine in Patients with Selective Tuhulopathy and with Fanconi Syndrome (1987) (24)
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. (1991) (24)
Demonstration of an inactive enzyme antigen in sucrase-isomaltase deficiency. (1973) (24)
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. (1985) (24)
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. (1975) (24)
Ultrastructural analysis of skin and aorta from a patient with Menkes disease. (1994) (24)
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation (1998) (24)
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes (2009) (24)
Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation (1990) (23)
Two‐dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses (2003) (23)
Bioflavonoid-mediated stabilization of collagen in adjuvant-induced arthritis. (1983) (22)
Heritable Disorders of Connective Tissues (1990) (21)
Catalytically inactive sucrase antigen of rabbit small intestine: the enzyme precursor. (1975) (21)
Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker (2007) (20)
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. (2001) (20)
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. (1996) (20)
Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss (20)
A recA deletion mutant of Mycobacterium bovis BCG confers protection equivalent to that of wild-type BCG but shows increased genetic stability. (2003) (20)
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis. (1998) (20)
Decreased thermal denaturation temperature of osteogenesis imperfecta mutant collagen is independent of post-translational overmodifications of lysine and hydroxylysine. (1989) (19)
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report (1990) (19)
Antibody activation of mutant human fructosediphosphate aldolase B in liver extracts of patients with hereditary fructose intolerance. (1974) (19)
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa. (1994) (19)
Genetic counselling on brittle grounds: Recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation (1995) (18)
Type I Osteogenesis Imperfecta: Diagnostic Difficulties (1999) (18)
Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling (2000) (18)
Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter (1998) (18)
Ehlers-Danlos syndrome type VI with normal lysyl hydroxylase activity cannot be explained by a defect in cellular uptake of ascorbic acid. (1989) (17)
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency (2013) (17)
Nailfold capillaroscopy: Specific features in Fabry disease. (2009) (17)
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. (1993) (17)
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome (1993) (16)
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis (1987) (16)
Persistent and Transient Distal Renal Tubular Acidosis with Bicarbonate Wasting (1975) (16)
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus. (1981) (16)
Clinical and genetic studies of disorders in fructose metabolism (1980) (15)
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations (2006) (15)
New bromisoval (bromural) metabolites in human urine: a-(cystein-S-yl)isovalerylurea, a-(N-acetylcystein-S-yl)isovalerylurea and a-(cysteamin-S-yl)isovaleric acid (1978) (15)
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. (2005) (15)
Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly (2002) (15)
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. (1983) (15)
Cardiovascular findings in arterial tortuosity syndrome. (2006) (15)
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia (1988) (14)
PRENATAL DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE: UNRELIABILITY OF FIBROBLAST NITROBLUE TETRAZOLIUM TEST (1981) (14)
Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth. (1996) (14)
[Dermatosparaxis in a foal and a cow--a rare disease?]. (1984) (14)
Ehlers-Danlos syndrome type VIII and leukodystrophy. (1996) (13)
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. (1999) (13)
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch) (1988) (13)
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) (2007) (12)
Hydantoin-5-Propionic Aciduria in Folic Acid Nondependent Formiminoglutamic Aciduria Observed in Two Siblings (1976) (12)
IN VITRO PROTEOGLYCAN SULFATION DERIVED FROM SULFHYDRYL COMPOUNDS IN SULFATE TRANSPORTER CHONDRODYSPLASIAS (2003) (12)
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature. (2001) (12)
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies (2019) (12)
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. (1991) (12)
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta. (1993) (11)
Influence of bioflavonoids on the collagen metabolism in rats with adjuvant induced arthritis. (1981) (11)
Influence of bioflavonoids on the metabolism and crosslinking of collagen. (1981) (11)
Hyperprolinaemia type I and white matter disease: Coincidence or causal relationship (1989) (11)
Microangiopathy in Ehlers-Danlos syndrome type IV. (1992) (11)
Metaphyseal peg in geroderma osteodysplasticum: a new genetic bone marker and a specific finding? (1996) (11)
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. (2011) (11)
TYPE m COLLAGEN DEFICIENCY (1989) (11)
Collagen degradation in I-cells is normal. (1990) (11)
Delayed helix formation of mutant collagen (1995) (10)
Marfan Syndrome (2005) (10)
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation (1991) (10)
A Structurally Abnormal α2(I) Collagen Chain in a Further Patient with the Ehlers‐Danlos Syndrome Type VII a (1985) (10)
A New High Performance Liquid Chromatography (HPLC) Method for the Quantitation of Strychnine in Urine and Tissue Extracts (1982) (10)
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers‐Danlos syndrome type VI‐B‐like features (1994) (9)
Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders. (2004) (9)
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge? (2010) (9)
Prenatal diagnosis of hereditary tyrosinemia. (1984) (9)
A Chondrodysplasia Family Produced by Mutations in the Diastrophic Dysplasia Sulfate mansporter (1996) (8)
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII. (1986) (8)
[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. (1986) (8)
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]. (2008) (8)
Normal production, nature, and extent of intracellular degradation of newly synthesized collagen in fibroblasts from a patient with prolidase deficiency. (1993) (8)
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII. (1990) (8)
Strychnine treatment attempted in newborn twins with severe nonketotic hyperglycinemia. (1979) (7)
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency. (2002) (7)
SSCP detection of a Gly565Val substitution in the proα(I) collagen chain resulting in osteogenesis imperfecta type II (1993) (7)
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene. (1990) (6)
Ehlers‐Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation (1996) (6)
A case of fatal hereditary fructose intolerance. Misleading information of formula composition. (1981) (6)
Menkes' disease: Clinical, therapeutic and biochemical studies (1983) (6)
TYPE III COLLAGEN DEFICIENCY (1989) (5)
Delayed Triple‐Helix Formation of Abnormal Type I Collagen Is Corrected by Reduced Temperature (1988) (5)
[Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation]. (1988) (5)
[Swiss warmblood horse with symptoms of hereditary equine regional dermal asthenia without mutation in the cyclophylin B gene (PPIB)]. (2010) (5)
Patients with hereditary fructose intolerance have normal erythrocyte aldolase activity. (1989) (5)
Enzymes and Metabolites of Carbohydrate Metabolism (2008) (5)
Essential fructosuria: increased levels of fructose 3-phosphate in erythrocytes. (1992) (5)
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen (1994) (5)
Hepatic glycogen synthetase deficiency not expressed in cultured skin fibroblasts. (1983) (4)
Skin and bone lesions (dermato-osteolathyrism), possible side effects of D-penicillamine treatment, in a boy with cystinuria. (1979) (4)
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII (2010) (4)
Mechanism of action of FK 506 and cyclosporin (1991) (4)
Dextromethorphan in infantile nonketotic hyperglycinemia. (1993) (4)
Large genomic W brillin-1 ( FBN 1 ) gene deletions provide evidence for true haploinsu Y ciency in Marfan syndrome (2007) (4)
Hereditärer Prolidasemangel Beitrag zur Differentialdiagnose therapieresistenter Beingeschwüre (2000) (4)
Dextromethorphan in infantilenonketotic hyperglycinemia (1993) (4)
Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis? (1985) (4)
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online. (1999) (4)
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum. (2000) (3)
Normal Thermal Stability of an Overmodified Type I Collagen Despite a Structural Mutation within the Triple Helical Region in a Case of Osteogenesis Irnperfecta Type IVB a (1988) (3)
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. (2009) (3)
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan. (2019) (3)
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (1993) (3)
Erratum to: Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo–in vitro (ex vivo) correlation (2002) (3)
Clinical and therapeutic aspects of non-ketotic hyperglycinaemia (1982) (3)
Neonatal hyperparathyroidism (2004) (3)
A DELETION IN ONE PRO-ALPHA1 (III) COLLAGEN GENE IN EHLERS-DANLOS SYNDROME TYPE IV (1987) (3)
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a novel RAB-6 interacting golgin (2009) (2)
The Editorial Manager (2005) (2)
Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders (2014) (2)
Dextromethorphan in a child with nonketotic hyperglycinaemia – a 6-year follow up (1998) (2)
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. (2008) (2)
[Hereditary diseases with joint laxity]. (1984) (2)
A HaeIII RFLP in COL1A1. (1990) (2)
FIXED THORACIC KYPHOSIS IN JUVENILES AND YOUNG ADULTS. MASKED MUCOPOLYSACCHARIDOSIS (MPS) VII (1980) (2)
[Hereditary disorders of fructose metabolism. Loading tests with fructose, sorbitol and dihydroxyacetone]. (1975) (2)
Effects of Mutant Gene Dosage on Phenotype (2016) (2)
Lysyl oxidase in osteogenesis imperfecta and Marfan's syndrome. (1988) (2)
Osteoporosis‐Pseudoglioma Syndrome (2003) (1)
Influence of bioflavonoids on lysosomal acid hydrolases and lysosomal stability. (1981) (1)
18: HYPERPARATHYROIDISM AND ALCAPTONURIA IN A NEONATE (1976) (1)
New bromisoval (bromural) metabolites in human urine: alpha-(cystein-S-yl)isovalerylurea, alpha-(N-acetylcystein-S-yl)isovalerylurea and alpha-(cysteamin-S-yl)isovaleric acid. (1978) (1)
[Benefit of clinical and laboratory parameters for the diagnosis of endometritis in dairy cows]. (2010) (1)
Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder? (1989) (1)
Non-invasive diagnosis of lung tuberculosis in children by single voxel 1H-magnetic resonance spectroscopy (2012) (1)
[Collagen in connective tissue: from glue to molecular structure]. (1984) (1)
TWO DIFFERENT CYSTEINE SUBSTITUTIONS IN THE SAME α1(I) CB6 PEPTIDE OF THE α1(I) COLLAGEN CHAIN PRODUCE A LETHAL AND A MILD FORM OF OSTEOGENESIS IMPERFECTA (OI) (1985) (1)
[Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis]. (2000) (1)
Type III collagen deficiency. (1989) (1)
Psychological adjustment and quality of life in children and adolescents with early treated phenylketonuria (1999) (1)
Myopathies Due to Defects in Collagen VI (2003) (1)
Microcephaly and maternal phenylketonuria (1996) (1)
Kniest Dysplasia: Clinical, Pathologic, and Molecular Findings in a Severely Affected Patient–And Review of the Literature (1998) (1)
Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta (1990) (1)
Zonal differences of alpha-glucosidases in human kidney: studies in controls and in patients with glycogenosis type II. (1983) (1)
Diagnostic work for research purpose should be acknowledged. (1999) (1)
Molecular genetic diagnosis of glycogen storage disease (GSD) type III: Experience from a large international cohort (2008) (1)
14 MUTUAL CORRECTION OF 14C-GALACTOSE MACROMOLECULAR INCORPORATION AND SECRETION BY GALACTOKINASE (GK-) AND GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (UDPT-) DEFICIENT FIBROBLASTS IN CULTURE (1988) (0)
Table 2. [PLOD1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
Ehlers-Danlos syndrome (EDS VI), Kyphoscoliotic type a differential diagnosis to be considered in hyptonic newborns (2008) (0)
Richard Gitzelmann (23rd February 1930–31st October 2013) (2014) (0)
DEMONSTRATION AND ISOLATION OF THE ENZYME PRECURSOR OF ACTIVE SUCRASE IN RABBIT AND HUMAN SMALL INTESTINE (1975) (0)
Genotype-phenotype correlation in patients with fibrillin-1 gene mutations (2005) (0)
FIRST DEMONSTRATION OF A STRUCTURAL MUTATION OF PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME (EDS): 69 (1980) (0)
Quality of life and individual physical perception in operated and non-operated Marfan syndrome (2007) (0)
Table 1. [Summary of Molecular Genetic Testing used in EDS, Kyphoscoliotic Form]. (2013) (0)
CONSISTENT LINKAGE OF DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA TO COLLAGEN-1 GENES (1988) (0)
CARDIOMEGALY RESPONSIVE TO CARNITIN (C) SUBSTITUTION IN THE NEONATE OF A CARNITIN DEFICIENT MOTHER (1985) (0)
Aberrant splicing of fibrillin-2 in a family with congenital contractual arachnodactyly (1997) (0)
Structural study of a mutant type I collagen from a patient with osteogenesis imperfecta (1986) (0)
[Fructose and sorbitol in infusion solutions are not always harmless]. (1976) (0)
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome]. (1997) (0)
Mutation analysis in metabolic disease – change in clinical practice? (2000) (0)
Clinical variability ofosteogenesis toCOL1A2andassociated witha imperfecta linked structural defect inthetypeIcollagen molecule (1989) (0)
140 METABOLIC CHANGES IN LIVER AFTER INTRAVENOUS FRUCTOSE IN ADULTS WITH DISCORDERS OF FRUCTOSE METABOLISM AND IN HEALTHY CONTROLS, FOLLOWED BY PHOSPHORUS MAGNETIC RESONNANCE SPECTROSCOPY (1991) (0)
Clinical and Therapeutic Aspects Hyperglyeinaemia of Non-ketotic (1982) (0)
A novel variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss – a differential diagnosis in floppy infant syndrome (2012) (0)
The boy with massive glucosuria. (2004) (0)
Clinical variability of osteogenesis to COL1A2 and associated with a imperfecta linked structural defect in the type I collagen molecule (0)
Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias (2002) (0)
UDP-GALACTOSE 4-EPIMERASE DEFICIENCY IN BLOOD CELLS (1976) (0)
88 MATERNAL PKU SYNDROME IN COUSINS CAUSED BY MILD, UNRECOGNIZED PHENYLKETONURIA IN THEIR MOTHERS HOMOZYGOUS FOR THE PHENYLALANINE HYDROXYLASE 261 ARG – GLN MUTATION (1990) (0)
Antibody activation of mutant fructaldolase (1974) (0)
Characterization of Large Deletions in the Pro‐α1(III) mRNA from Two Ehlers‐Danlos Type IV Patients a (1990) (0)
Doppler ultrasound examination of patients affected by Fabry disease (2003) (0)
Concluding remarks (2005) (0)
Book Review (1993) (0)
MICROCEPHALY AND MATERNAL PHENYLKETONURIA. AUTHORS' REPLY (1996) (0)
Homozygosity for G530S in COL5A1 in a patient with the classical type of Ehlers-Danlos syndrome (EDS). (2000) (0)
[Can familial Eyelid ptosis be an expression of Ehlers-Danlos syndrome?]. (1985) (0)
TISSUE LYSYL OXIDASE ACTIVITY IS DECREASED IN MENKES' DISEASE (1987) (0)
Response (2008) (0)
Truncated profibrillin of a Marfan patient is of similar size to fibrillin, but is more N-glycosylated and disturbs microfibril assembly (1995) (0)
Supported by an educational grant from The boy with massive glucosuria (2004) (0)

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