Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Bodamer
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OA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. obodamer@bcm.tmc.edu
Rosenblatt
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DS
Appel
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SH
Beaudet
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AL
D000328:Adult; D002331:Carnitine / Q000627:therapeutic use; D018753:Diet, Protein-Restricted; D006397:Hematinics / Q000627:therapeutic use; D006712:Homocystinuria / Q000097:blood / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D050721:Proto-Oncogene Proteins c-cbl; D015682:Retroviridae Proteins, Oncogenic / Q000235:genetics; D014805:Vitamin B 12 / Q000097:blood*
D006397:Hematinics; D015682:Retroviridae Proteins, Oncogenic; D008764:Methylmalonic Acid; D050721:Proto-Oncogene Proteins c-cbl; C422087:Cblc protein, mouse; D014805:Vitamin B 12; D006879:Hydroxocobalamin; D002331:Carnitine