Published in Helv Paediatr Acta on January 01, 1979
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis (2011) 1.06
Congenital disorders of vitamin B12 transport and their contributions to concepts. II. Yale J Biol Med (1982) 0.90
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis (2016) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet (1998) 7.68
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell (1993) 4.13
Results with radioisotopic assay of serum B12 using serum binding agent. J Clin Pathol (1967) 2.84
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet (1997) 2.40
Analysis and regulation of vasodilator-stimulated phosphoprotein serine 239 phosphorylation in vitro and in intact cells using a phosphospecific monoclonal antibody. J Biol Chem (1998) 2.14
Net costs of dementia by disease stage. Acta Psychiatr Scand (2011) 2.11
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet (1999) 1.99
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis (2006) 1.98
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. N Engl J Med (1992) 1.95
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
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. J Biol Chem (1988) 1.88
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. J Biol Chem (1984) 1.84
Normal values for individual plasma cobalamins. J Clin Pathol (1969) 1.84
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem (1988) 1.83
Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency. Paediatr Anaesth (2002) 1.70
Milk protein quantity and quality in low-birthweight infants: I. Metabolic responses and effects on growth. Pediatrics (1976) 1.70
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Plasma-cobalamins in neuro-ophthalmological diseases. Lancet (1971) 1.68
In vitro and in vivo estrogenicity of UV screens. Environ Health Perspect (2001) 1.65
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65
Multiple sclerosis associated with vitamin B12 deficiency. Arch Neurol (1991) 1.60
Osteogenesis imperfecta: update and perspective. Am J Med Genet (1984) 1.60
Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem (1994) 1.58
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr (1995) 1.57
Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res (1997) 1.53
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology (1993) 1.51
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr (2001) 1.50
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am J Hum Genet (1990) 1.45
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med (2002) 1.45
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P. J Lab Clin Med (1997) 1.42
Tetanus: a diagnostic challenge in the Western world. Acta Clin Belg (2014) 1.41
Metabolism of L- 35 S-methionine in vitamin B 6 deficiency: observations on cystathioninuria. Biochem Med (1970) 1.40
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. J Biol Chem (1989) 1.40
Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr (1997) 1.40
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet (1995) 1.39
Mutations in Drosophila enabled and rescue by human vasodilator-stimulated phosphoprotein (VASP) indicate important functional roles for Ena/VASP homology domain 1 (EVH1) and EVH2 domains. Mol Biol Cell (1998) 1.38
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest (1979) 1.36
Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta. J Mol Biol (1994) 1.36
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. Am J Hum Genet (1991) 1.35
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem (2000) 1.34
Vitamin B12 deficiency, demyelination, and multiple sclerosis. Lancet (1987) 1.32
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med (1981) 1.31
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet (1999) 1.29
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun (1990) 1.27
The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta (1981) 1.27
Taurine: biological update. Annu Rev Biochem (1986) 1.27
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. J Biol Chem (1991) 1.27
Patterns of plasma cobalamins in control subjects and in cases of vitamin B12 deficiency. J Clin Pathol (1969) 1.25
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet (1989) 1.24
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet (2001) 1.21
Variants of citrullinaemia. Arch Dis Child (1973) 1.20
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nat Genet (1992) 1.20
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr (1998) 1.18
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland. Am J Hum Genet (1989) 1.17
Pyridoxine-dependency in homocystinuria. Lancet (1968) 1.16
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest (2001) 1.16
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literature. Eur J Pediatr (1988) 1.15
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. Am J Hum Genet (1991) 1.14
Methionine intolerance: a possible risk factor for coronary artery disease. J Am Coll Cardiol (1985) 1.14
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest (1994) 1.13
Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver. Biochem J (1982) 1.12
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation. Helv Paediatr Acta (1973) 1.12
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet (2000) 1.12
Milk protein quantity and quality in low-birth-weight infants. III. Effects on sulfur amino acids in plasma and urine. J Pediatr (1977) 1.12
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res (1989) 1.12
Identification of profilin and src homology 3 domains as binding partners for Drosophila enabled. Proc Natl Acad Sci U S A (1999) 1.11
Demonstration of an inactive enzyme antigen in sucrase-isomaltase deficiency. Helv Paediatr Acta (1973) 1.11
Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms. J Biol Chem (1986) 1.11
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. Matrix Biol (1998) 1.10
Severe liver fibrosis in argininosuccinic aciduria. Arch Pathol Lab Med (1986) 1.10
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. J Pediatr (1981) 1.10
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. Biochem Biophys Res Commun (1988) 1.09
Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA. Eur J Neurol (2012) 1.09
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv Paediatr Acta (1975) 1.09
Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res (2001) 1.07
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Hum Mol Genet (1994) 1.07
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am J Hum Genet (1997) 1.07
Effects of smoking on metabolism and excretion of vitamin B12. Br Med J (1968) 1.07
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. J Biol Chem (1987) 1.06
N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Eur J Pediatr (1991) 1.06
Galactosemia: how does long-term treatment change the outcome? Enzyme (1984) 1.06
N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv Exp Med Biol (1982) 1.05
Purification and properties of arginase from human liver and erythrocytes. Biochem J (1978) 1.05
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. Helv Paediatr Acta (1983) 1.05
Osteoporosis-pseudoglioma or osteogenesis imperfecta? Clin Genet (1986) 1.04
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. J Biol Chem (1993) 1.04
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics (1992) 1.03
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
Increased ratio between serum beta- and alpha-lipoproteins during diuretic therapy: an adverse effect? Clin Sci Mol Med Suppl (1978) 1.03
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. Science (1974) 1.02
Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr (1994) 1.02
A HaeIII RFLP in COL1A1. Nucleic Acids Res (1990) 1.02
Catalytically inactive sucrase antigen of rabbit small intestine: the enzyme precursor. Helv Paediatr Acta (1975) 1.02