4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance. 1984

K M Gibson, and I Jansen, and L Sweetman, and W L Nyhan, and D Rating, and C Jakobs, and P Divry

UI MeSH Term Description Entries
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D002262 Carboxy-Lyases Enzymes that catalyze the addition of a carboxyl group to a compound (carboxylases) or the removal of a carboxyl group from a compound (decarboxylases). EC 4.1.1. Carboxy-Lyase,Decarboxylase,Decarboxylases,Carboxy Lyase,Carboxy Lyases
D005260 Female Females
D005680 gamma-Aminobutyric Acid The most common inhibitory neurotransmitter in the central nervous system. 4-Aminobutyric Acid,GABA,4-Aminobutanoic Acid,Aminalon,Aminalone,Gammalon,Lithium GABA,gamma-Aminobutyric Acid, Calcium Salt (2:1),gamma-Aminobutyric Acid, Hydrochloride,gamma-Aminobutyric Acid, Monolithium Salt,gamma-Aminobutyric Acid, Monosodium Salt,gamma-Aminobutyric Acid, Zinc Salt (2:1),4 Aminobutanoic Acid,4 Aminobutyric Acid,Acid, Hydrochloride gamma-Aminobutyric,GABA, Lithium,Hydrochloride gamma-Aminobutyric Acid,gamma Aminobutyric Acid,gamma Aminobutyric Acid, Hydrochloride,gamma Aminobutyric Acid, Monolithium Salt,gamma Aminobutyric Acid, Monosodium Salt
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006884 Hydroxybutyrate Dehydrogenase 3-Hydroxybutyrate Dehydrogenase,D-3-Hydroxybutyrate Dehydrogenase,D-beta-Hydroxybutyrate Dehydrogenase,3 Hydroxybutyrate Dehydrogenase,D 3 Hydroxybutyrate Dehydrogenase,D beta Hydroxybutyrate Dehydrogenase,Dehydrogenase, 3-Hydroxybutyrate,Dehydrogenase, D-3-Hydroxybutyrate,Dehydrogenase, D-beta-Hydroxybutyrate,Dehydrogenase, Hydroxybutyrate
D006885 Hydroxybutyrates Salts and esters of hydroxybutyric acid. Hydroxybutyric Acid Derivatives,Hydroxybutyric Acids,Acid Derivatives, Hydroxybutyric
D012978 Sodium Oxybate The sodium salt of 4-hydroxybutyric acid. It is used for both induction and maintenance of ANESTHESIA. 4-Hydroxybutyrate Sodium,Oxybate Sodium,Sodium Oxybutyrate,Sodium gamma-Hydroxybutyrate,gamma-Hydroxybutyrate,Somsanit,Xyrem,4 Hydroxybutyrate Sodium,Oxybate, Sodium,Oxybutyrate, Sodium,Sodium gamma Hydroxybutyrate,gamma Hydroxybutyrate

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