Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA : A case report

Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched‐chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex. Various MSUD‐causing varia...

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Detalles Bibliográficos
Autores principales: Yokoi, Katsuyuki, Nakajima, Yoko, Sudo, Yuta, Mariya, Tasuku, Kawamura, Rie, Tsutsumi, Makiko, Inagaki, Hidehito, Yoshikawa, Tetsushi, Ito, Tetsuya, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626657/
https://www.ncbi.nlm.nih.gov/pubmed/36341163
http://dx.doi.org/10.1002/jmd2.12333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626657/
https://www.ncbi.nlm.nih.gov/pubmed/36341163
http://dx.doi.org/10.1002/jmd2.12333

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