IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA

BACKGROUND. Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolat...

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Vydáno v:Acta Endocrinol (Buchar)
Hlavní autoři: Tang, D., Chen, G., Liu, S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Acta Endocrinologica Foundation 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7535898/
https://ncbi.nlm.nih.gov/pubmed/33029243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4183/aeb.2020.242
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