[Maple syrup urine disease. Genetic heterogeneity, heterozygote diagnosis and new therapeutic approach (author's transl)].
D050645:2-Oxoisovalerate Dehydrogenase (Acylating); D000596:Amino Acids / Q000008:administration & dosage; D000597:Amino Acids, Branched-Chain / Q000032:analysis / Q000378:metabolism; D004044:Dietary Proteins / Q000008:administration & dosage; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007651:Keto Acids / Q000032:analysis; D007658:Ketone Oxidoreductases / Q000032:analysis; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*
D000596:Amino Acids; D000597:Amino Acids, Branched-Chain; D004044:Dietary Proteins; D007651:Keto Acids; D007658:Ketone Oxidoreductases; D050645:2-Oxoisovalerate Dehydrogenase (Acylating)
Enfermedad de orina de jarabe de arce: heterogeneidad genética, diagnóstico de heterocigotos y un nuevo enfoque terapéutico.