Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominant...

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Published in:Orphanet J Rare Dis
Main Authors: Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7603684/
https://ncbi.nlm.nih.gov/pubmed/33131499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01590-7
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