title: Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man.
mesh_terms: D000328:Adult; D000818:Animals; D002904:Chromosomes, Human, 21-22 and Y; D003541:Cystathionine beta-Synthase / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis / Q000201:enzymology* / Q000503:physiopathology; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis
chemical_list: D006836:Hydro-Lyases; D003541:Cystathionine beta-Synthase