Molecular basis of various forms of maple syrup urine disease in Chilean patients

Molecular basis of various forms of maple syrup urine disease in Chilean patients

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

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Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: Wiley 2021-05-01
Sraith:Molecular Genetics & Genomic Medicine
Ábhair:
branched‐chain amino acids
inborn errors of metabolism
isoleucine
leucine
maple syrup urine disease
valine
Rochtain ar líne:https://doi.org/10.1002/mgg3.1616

Ar líne

https://doi.org/10.1002/mgg3.1616

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