A case of familial cystathioninuria with goiter and some anomalies.
D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D000818:Animals; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003241:Consanguinity; D006042:Goiter / Q000150:complications*; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism; D012695:L-Serine Dehydratase / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D008297:Male; D007470:Monoiodotyrosine / Q000378:metabolism; D010375:Pedigree; D051381:Rats; D013960:Thyroid Function Tests; D013963:Thyroid Hormones / Q000627:therapeutic use; D013974:Thyroxine / Q000096:biosynthesis
D000596:Amino Acids; D013963:Thyroid Hormones; D006836:Hydro-Lyases; D012695:L-Serine Dehydratase; D007470:Monoiodotyrosine; D013974:Thyroxine