Published in Clin Chim Acta on May 30, 1973
Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects. Biochem J (1981) 0.98
Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures. Am J Hum Genet (1982) 0.96
Distribution of branched-chain alpha-keto acid dehydrogenases in primate tissues. J Clin Invest (1977) 0.88
Prenatal diagnosis of genetic disorders. J Med Genet (1976) 0.87
Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids. Am J Hum Genet (1977) 0.86
Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment. Data Brief (2016) 0.75
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child (1970) 2.87
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet (1989) 2.80
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med (1967) 2.36
Congenital malformations in autosomal trisomy syndromes. Am J Dis Child (1966) 2.03
Racial differences in alcohol sensitivity: a new hypothesis. Hum Genet (1979) 2.01
Liver alcohol dehydrogenase and aldehyde dehydrogenase in the Japanese: isozyme variation and its possible role in alcohol intoxication. Am J Hum Genet (1980) 1.97
Genetics of the apolipoprotein E system in man. Am J Hum Genet (1980) 1.94
Aldehyde dehydrogenase deficiency as cause of facial flushing reaction to alcohol in Japanese. Lancet (1981) 1.92
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics (1966) 1.79
Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet (1971) 1.67
Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik (1966) 1.64
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. Am J Med Genet (1991) 1.59
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58
The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Polymorphism of delta-aminolevulinic acid dehydratase in lead-exposed workers. Int Arch Occup Environ Health (1986) 1.51
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet (1994) 1.49
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr (1984) 1.47
Possible protective role against alcoholism for aldehyde dehydrogenase isozyme deficiency in Japan. Lancet (1982) 1.46
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics (2000) 1.44
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta (1976) 1.44
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet (1985) 1.44
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet (1999) 1.42
[Chronic anemia and abdominal pain as a sequela of lead poisoning]. Dtsch Med Wochenschr (2001) 1.38
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet (1997) 1.38
Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib. J Magn Reson Imaging (2001) 1.37
8-Hydroxy-2'-deoxyguanosine as a marker of oxidative DNA damage related to occupational and environmental exposures. Int Arch Occup Environ Health (2006) 1.35
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet (1996) 1.34
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma. Hum Genet (1994) 1.33
Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet (1992) 1.31
X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. Nat New Biol (1973) 1.30
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30
Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Hum Genet (1984) 1.27
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet (1997) 1.27
Familial translocation (3?--;G?- q+) and nondisjunction of chromosome in group G in two unrelated families. Cytogenetics (1969) 1.26
Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet (1989) 1.24
Prevalence of coeliac disease in diabetic children and adolescents. A multicentre study. Eur J Pediatr (1988) 1.22
Population genetic studies on aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity. Am J Hum Genet (1983) 1.22
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum. Ann Hum Genet (1976) 1.21
On the origin of the supernumerary chromosome in autosomal trisomies--with special reference to Down's syndrome. A bias in tracing nondisjunction by chromosomal and biochemical polymorphisms. Hum Genet (1976) 1.20
Unilateral agenesis of the diaphragm. Humangenetik (1968) 1.18
Incorrect use of the term synteny. Nat Genet (1999) 1.17
Construction of a chromosome 15-specific linking library and identification of potential gene sequences. Genomics (1988) 1.17
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology (1988) 1.15
Isozyme variations in acetaldehyde dehydrogenase (e.c.1.2.1.3) in human tissues. Hum Genet (1978) 1.13
Oxidation of branched chain -ketoacids in Streptococcus faecalis and it's dependence on lipoic acid. Hoppe Seylers Z Physiol Chem (1972) 1.13
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest (2004) 1.13
DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population. Hum Genet (1989) 1.12
Genetic studies on alcohol-metabolizing enzymes: detection of isozymes in human hair roots. Enzyme (1980) 1.12
[Lip prints--variability and genetics (author's transl)]. Humangenetik (1975) 1.12
A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids. Biochem J (1972) 1.12
Alcohol metabolizing enzymes: studies of isozymes in human biopsies and cultured fibroblasts. Clin Genet (1979) 1.11
Aldehyde dehydrogenase polymorphism and alcohol metabolism in alcoholics. Alcohol (1985) 1.10
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09
Biguanide treatment increases the number of insulin-receptor sites on human erythrocytes. N Engl J Med (1981) 1.09
Polymorphism of delta-aminolevulinic acid dehydratase in various populations. Hum Hered (1983) 1.09
Human breast cancer: frequent p53 allele loss and protein overexpression. Hum Genet (1993) 1.08
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem (1995) 1.08
Electrophoretic and biochemical studies of human aldehyde dehydrogenase isozymes in various tissues. Life Sci (1980) 1.08
On the problem of a "silent gene" in pseudocholinesterase polymorphism. Biochim Biophys Acta (1965) 1.07
Racial differences in biological sensitivity to ethanol: the role of alcohol dehydrogenase and aldehyde dehydrogenase isozymes. Alcohol Clin Exp Res (1981) 1.07
Social outcome in adults with maple syrup urine disease (MSUD). J Inherit Metab Dis (2007) 1.07
Human liver alcohol dehydrogenase isoenzyme variations. Improved separation methods using prolonged high voltage starch-gel electrophoresis and isoelectric focusing. Hum Genet (1978) 1.06
Polymorphism of aldehyde dehydrogenase and alcohol sensitivity. Enzyme (1987) 1.05
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. Birth Defects Orig Artic Ser (1977) 1.05
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet (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
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet (1991) 1.04
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences. Genomics (1990) 1.04
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve (1983) 1.04
Variant maple syrup urine disease (MSUD)--the entire spectrum. J Inherit Metab Dis (2006) 1.04
Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology (1996) 1.04
Pregnancy in a woman with maple syrup urine disease. J Inherit Metab Dis (1998) 1.03
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. Hum Genet (1989) 1.03
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am J Hum Genet (1977) 1.03
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. Horm Metab Res (2006) 1.02
Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet (1977) 1.02
5-Ethyl-2'-deoxyuridine: absence of effects on the chromosomes of human lymphocytes and fibroblasts in culture. Humangenetik (1974) 1.02
Aldehyde dehydrogenase isozyme variation and alcoholism in Japan. Pharmacol Biochem Behav (1983) 1.02
Alpha-ketoadipic aciduria: degradation studies with fibroblasts,. Clin Chim Acta (1975) 1.02
Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab (2004) 1.02
Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy. Ann Neurol (1993) 1.01
[Dermatoglyphics in patients with endogenous eczema and a contribution on the technic of dactyloscopy]. Anthropol Anz (1971) 1.00
Pseudocholinesterase-variants in Thailand and Japan. Humangenetik (1967) 1.00
A patient with alpha-ketoadipic and alpha-aminoadipic aciduria. J Inherit Metab Dis (1984) 0.99
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. Hum Genet (1984) 0.99
UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes. Hum Genet (1977) 0.99
Longitudinal study of urinary 8-hydroxy-2'-deoxyguanosine excretion in healthy adults. Free Radic Res (2001) 0.99
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta (1975) 0.99
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis (2008) 0.99
Testicular feminisation and inguinal hernia. Lancet (1973) 0.98
Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr (1967) 0.98
Bloom's syndrome. VII. Progress report for 1978. Clin Genet (1979) 0.98