L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

Early recognition of rare mitochondrial respiratory chain defects has become readily available with the routine use of whole exome sequencing. Patients with oxidative phosphorylation defects present with a heterogenous phenotype, often rapidly progressive, and lethal. Clinicians aim for prompt ident...

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Detalles Bibliográficos
Autores principales: Soler-Alfonso, Claudia, Pillai, Nishita, Cooney, Erin, Mysore, Krupa R., Boyer, Suzanne, Scaglia, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355510/
https://www.ncbi.nlm.nih.gov/pubmed/30740308
http://dx.doi.org/10.1016/j.ymgmr.2019.100453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355510/
https://www.ncbi.nlm.nih.gov/pubmed/30740308
http://dx.doi.org/10.1016/j.ymgmr.2019.100453

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