[Homocystinuria. Clinical review and report of a case].
D000603:Amino Acids, Sulfur / Q000378:metabolism; D001847:Bone Diseases / Q000209:etiology; D003541:Cystathionine beta-Synthase / Q000172:deficiency; D005128:Eye Diseases / Q000209:etiology; D006710:Homocysteine / Q000378:metabolism; D006711:Homocystine / Q000378:metabolism; D006712:Homocystinuria / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D006801:Humans; D007408:Intestinal Absorption; D008780:Methyltransferases / Q000172:deficiency; D009422:Nervous System Diseases / Q000209:etiology; D012871:Skin Diseases / Q000209:etiology; D013762:Tetrahydrofolate Dehydrogenase / Q000172:deficiency; D013927:Thrombosis / Q000209:etiology; D014805:Vitamin B 12 / Q000378:metabolism
D000603:Amino Acids, Sulfur; D006710:Homocysteine; D006711:Homocystine; D013762:Tetrahydrofolate Dehydrogenase; D008780:Methyltransferases; D003541:Cystathionine beta-Synthase; D014805:Vitamin B 12
L'omocistinuria. Sintesi clinica e descrizione di un caso