Published in Clin Chim Acta on May 02, 1977
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Bovine kidney 3-methylcrotonyl-CoA and propionyl-CoA carboxylases: each enzyme contains nonidentical subunits. Proc Natl Acad Sci U S A (1979) 1.00
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Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia. J Inherit Metab Dis (1989) 0.81
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A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
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The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
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Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest (1979) 1.73
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet (1971) 1.57
Identification of methylenecyclopropyl acetic acid in serum of European horses with atypical myopathy. Equine Vet J (2013) 1.55
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr (2000) 1.53
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest (1987) 1.49
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med (1978) 1.42
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom (1990) 1.41
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The commercial production of chemicals using pathway engineering. Biochim Biophys Acta (2000) 1.41
An improved chemical ionization assay for mevalonic acid. Biomed Environ Mass Spectrom (1990) 1.40
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest (1981) 1.39
NTBC and alkaptonuria. Am J Hum Genet (1998) 1.38
Purification and properties of mitochondrial monoamine oxidase type A from human placenta. J Biol Chem (1985) 1.36
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Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism. Genomics (1988) 1.30
Effect of adenosine deaminase upon the antiviral activity in vitro of adenine arabinoside for vaccinia virus. Antimicrob Agents Chemother (1974) 1.30
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem (1989) 1.28
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol (1999) 1.28
Determination of plaque inhibitory activity of adenine arabinoside (9-beta-D-arabinofuranosyladenine) for herpesviruses using an adenosine deaminase inhibitor. Antimicrob Agents Chemother (1974) 1.28
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med (1986) 1.27
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology (1976) 1.27
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci (1975) 1.26
Correlation between Bacillus subtilis scoC phenotype and gene expression determined using microarrays for transcriptome analysis. J Bacteriol (2001) 1.26
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res (1989) 1.25
An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gel. Biochem Genet (1969) 1.25
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr (1973) 1.25
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res (2000) 1.25
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr (1976) 1.24
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis (1981) 1.23
Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr (1986) 1.21
Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr (1971) 1.20
Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand (1978) 1.20
Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr (1969) 1.20
Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis (1993) 1.19
Glutaric aciduria Type II. J Pediatr (1980) 1.16
The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids (2004) 1.14
Abnormalities of fatty acid oxidation. N Engl J Med (1988) 1.13
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Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. J Pediatr (1968) 1.10
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. Pediatr Res (1990) 1.09
A new disorder of purine metabolism with behavioral manifestations. J Pediatr (1969) 1.07
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. J Biol Chem (1972) 1.07
Nonketotic hyperglycinemia. J Pediatr (1969) 1.07
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Neutropenia of childhood. West J Med (1982) 1.05
Specificity of antisera prepared against pure bovine MAO-B. Brain Res (1983) 1.05
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr (1988) 1.05
Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol (1982) 1.05
Acute basal ganglia infarction in propionic acidemia. J Child Neurol (1995) 1.05
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. Fed Proc (1968) 1.05
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
The Lesch-Nyhan syndrome. Annu Rev Med (1973) 1.04
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme. Proc Natl Acad Sci U S A (1972) 1.04
Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts. Proc Natl Acad Sci U S A (1973) 1.04
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol (1989) 1.03
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res (1979) 1.03
Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev (2001) 1.03
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet (1979) 1.03
Congenital cutis laxa and osteoporosis. Am J Dis Child (1983) 1.02
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn (1999) 1.02
Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr (1970) 1.02
Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol (1974) 1.01
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr (1988) 1.01
3-Hydroxy-3-methylglutaric aciduria. J Neurogenet (1984) 1.00
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. N Engl J Med (1981) 1.00
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree. Equine Vet J (2012) 1.00
Malonic aciduria. Brain Dev (1994) 1.00
Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis (1996) 1.00
Behavior in the Lesch--Nyhan syndrome. J Autism Child Schizophr (1976) 0.99
Application of metabolic engineering to improve both the production and use of biotech indigo. J Ind Microbiol Biotechnol (2002) 0.99
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta (1983) 0.99
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. J Pediatr (1975) 0.99
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Pediatr Res (1977) 0.99
Editorial: Diabetic ketosis and acidosis: The continuous infusion of low doses of insulin. J Pediatr (1975) 0.99