Published in Pediatr Res on February 01, 1987
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Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet (1997) 2.40
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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
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
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
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
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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
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology (1993) 1.51
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
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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
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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
Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet (1965) 1.34
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
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med (1981) 1.31
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. Hum Genet (1998) 1.29
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
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
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
Why we should not screen our newborns for cystic fibrosis. Helv Paediatr Acta (1981) 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
Urine analysis performed by flow cytometry: reference range determination and comparison to morphological findings, dipstick chemistry and bacterial culture results--a multicenter study. Clin Nephrol (2001) 1.19
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
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics (1968) 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
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
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome. Pediatr Res (1989) 1.12
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest (1998) 1.11
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
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
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
Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene. Eur J Cell Biol (1995) 1.08
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet (1999) 1.08
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
[The blood-xylose test in childhood: correlation between 1 hour blood-xylose levels and numbers of intraepithelial lymphocytes in intestinal mucosa in celiac disease]. Helv Paediatr Acta (1976) 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
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
The effect of enzyme induction on diazepam metabolism in man. Br J Clin Pharmacol (1979) 1.05
Purification and properties of arginase from human liver and erythrocytes. Biochem J (1978) 1.05
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. J Inherit Metab Dis (1995) 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