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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| 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 |