Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D003540:Cystathionine; D005260:Female; D006579:Heterozygote; D006710:Homocysteine; D006712:Homocystinuria / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology / Q000235:genetics; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008715:Methionine; D008930:Mitochondria, Liver; D011736:Pyridoxine / Q000627:therapeutic use; D014166:Transferases / Q000378:metabolism; D014174:Transketolase / Q000378:metabolism
D006710:Homocysteine; D003540:Cystathionine; D008715:Methionine; D014166:Transferases; D014174:Transketolase; D006836:Hydro-Lyases; D011736:Pyridoxine