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Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review

RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To d...

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Detalles Bibliográficos
Autores principales:	Yan, Hui-ming, Hu, Hao, Ahmed, Aisha, Feng, Bing-bing, Liu, Jing, Jia, Zheng-jun, Wang, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2017
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690761/ https://www.ncbi.nlm.nih.gov/pubmed/29137068 http://dx.doi.org/10.1097/MD.0000000000008549

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