Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global developmental delay, microcephaly, dysmorphic facial featur...

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Enregistré dans:
Détails bibliographiques
Publié dans:JIMD Rep
Auteurs principaux: Chang, Caitlin A., Wei, Xing‐Chang, Martin, Steven R., Sinasac, David S., Al‐Hertani, Walla
Format: Artigo
Langue:Inglês
Publié: John Wiley & Sons, Inc. 2019
Sujets:
Case Reports
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718116/
https://ncbi.nlm.nih.gov/pubmed/31497478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12064
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