Published in Eur J Pediatr on January 01, 1993
Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr (1997) 2.54
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. Eur J Pediatr (2008) 0.84
Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol (2013) 0.83
Pearson syndrome in a Diamond-Blackfan anemia cohort. Blood (2014) 0.78
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med (2016) 0.76
Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol (2016) 0.75
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD Rep (2015) 0.75
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome. Iran J Pediatr (2010) 0.75
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. Eur J Pediatr (2015) 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
Trends in childhood type 1 diabetes incidence in Europe during 1989-2008: evidence of non-uniformity over time in rates of increase. Diabetologia (2012) 2.85
Insulin-like growth factor I stimulates growth in hypophysectomized rats. Nature (1982) 2.79
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
IgE-mediated allergy to pholcodine and cross-reactivity to neuromuscular blocking agents: Lessons from flow cytometry. Cytometry B Clin Cytom (2013) 2.21
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
Disseminated cat-scratch disease: detection of Rochalimaea henselae in affected tissue. Eur J Pediatr (1994) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Insulin-like growth factors I and II: some biological actions and receptor binding characteristics of two purified constituents of nonsuppressible insulin-like activity of human serum. Eur J Biochem (1978) 1.88
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
Good metabolic control is associated with better quality of life in 2,101 adolescents with type 1 diabetes. Diabetes Care (2001) 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
Survival and disease complications in thalassemia major. Ann N Y Acad Sci (1998) 1.62
Osteogenesis imperfecta: update and perspective. Am J Med Genet (1984) 1.60
Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Horm Res (2006) 1.58
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr (1995) 1.57
Maternal uniparental disomy 7--review and further delineation of the phenotype. Eur J Pediatr (2000) 1.56
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology (1993) 1.51
The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. Eur J Pediatr (1995) 1.49
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
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 pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet (1995) 1.39
Insulin detemir compared with NPH insulin in children and adolescents with Type 1 diabetes. Diabet Med (2007) 1.36
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
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
Inhibition of the action of nonsuppressible insulin-like activity on isolated rat fat cells by binding to its carrier protein. J Clin Invest (1979) 1.28
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
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nat Genet (1992) 1.20
Effect of trypsin treatment of rat adipocytes on biological effects and binding of insulin and insulin-like growth factors: further evidence for the action of insulin-like growth factors through the insulin receptor. Eur J Biochem (1981) 1.18
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
Comparison of in vivo effects of insulin-like growth factors I and II and of growth hormone in hypophysectomized rats. Acta Endocrinol (Copenh) (1985) 1.16
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
Adenosine deaminase deficiency in adults. Blood (1997) 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
Invasive infection with Mycobacterium genavense in three children with the acquired immunodeficiency syndrome. Eur J Clin Microbiol Infect Dis (1993) 1.13
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest (1994) 1.13
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
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest (1998) 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
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
Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA. Eur J Neurol (2012) 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
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet (1999) 1.08
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
Is the use of NMBA dissuaded in individuals who display positive sIgE to QAS? Clin Exp Allergy (2014) 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
Galactosemia: how does long-term treatment change the outcome? Enzyme (1984) 1.06
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
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
Osteoporosis-pseudoglioma or osteogenesis imperfecta? Clin Genet (1986) 1.04
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl. Arch Dis Child (1977) 1.03
Excretion of pterins in phenylketonuria and phenylketonuria variants. Helv Paediatr Acta (1980) 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
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. J Bone Joint Surg Am (1999) 1.01
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Am J Med Genet (1998) 1.01
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Hum Genet (1993) 1.00
Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet (1996) 0.99
Molecular nosology of heritable disorders of connective tissue. Am J Med Genet (1992) 0.98
Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. Pediatr Res (1985) 0.98