A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review
IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use th...
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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2023-04-01
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| Col·lecció: | Frontiers in Pediatrics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fped.2023.1133134/full |
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