Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine

This paper reports studies of two patients proven by a variety of studies to have mitochondrial depletion syndromes due to mutations in either their MPV17 or DGUOK genes. Each was initially investigated metabolically because of plasma methionine concentrations as high as 15–21-fold above the upper l...

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Hauptverfasser: Mudd, S. Harvey, Wagner, Conrad, Luka, Zigmund, Stabler, Sally P., Allen, Robert H., Schroer, Richard, Wood, Timothy, Wang, Jing, Wong, Lee-Jun
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3264801/
https://ncbi.nlm.nih.gov/pubmed/22137549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.11.006
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