A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review

INTRODUCTION: Malonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan. METHODS: We collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq....

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Detalles Bibliográficos
Autores principales: Zhao, Cong, Peng, Hua, Jiang, Nanchuan, Liu, Yalan, Chen, Yan, Liu, Jie, Guo, Qing, Wu, Zubo, Wang, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152364/
https://www.ncbi.nlm.nih.gov/pubmed/37144154
http://dx.doi.org/10.3389/fped.2023.1133134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152364/
https://www.ncbi.nlm.nih.gov/pubmed/37144154
http://dx.doi.org/10.3389/fped.2023.1133134

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