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Pregnancy in an adolescent with maple syrup urine disease: Case report

Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Elevation of BCAA and certain alpha keto-acids is associated with a catabolic state and may result in neurolo...

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Detalles Bibliográficos
Autores principales: Abadingo, Michelle E., Abacan, Mary Ann R., Basas, Jeanne Ruth U., Padilla, Carmencita D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042167/
https://www.ncbi.nlm.nih.gov/pubmed/33868929
http://dx.doi.org/10.1016/j.ymgmr.2021.100745