Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report

The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine translocase deficiency (CACTD) in infant male and female twins that presented with symptoms shortly after elective caesarean delivery. The clinical manifestations were neonatal hypoglyc...

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Detalles Bibliográficos
Autores principales: Zhang, Liya, Hu, Ying, Xie, Min, Zhang, Yuxin, Cen, Kuankuan, Chen, Lili, Cui, Yingbo, Li, Haibo, Wang, Donge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155003/
https://www.ncbi.nlm.nih.gov/pubmed/37115522
http://dx.doi.org/10.1177/03000605231163811

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155003/
https://www.ncbi.nlm.nih.gov/pubmed/37115522
http://dx.doi.org/10.1177/03000605231163811

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