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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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| Publicado no: | Acta Endocrinol (Buchar) |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Acta Endocrinologica Foundation
2020
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| Assuntos: | |
| Acesso em linha: | 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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