Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients

RATIONALE: Holocarboxylase synthetase (HCLS) deficiency, especially the late-onset type, is a rare disease. Affected patients can present with irreversible metabolic acidosis and may be misdiagnosed with a glucose metabolic disorder. Prompt and correct diagnosis and treatment can reduce mortality to...

Descripción completa

Detalles Bibliográficos
Autores principales: Xiong, Zihong, Zhang, Guoying, Luo, Xiaoli, Zhang, Ning, Zheng, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
4300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440356/
https://www.ncbi.nlm.nih.gov/pubmed/32358368
http://dx.doi.org/10.1097/MD.0000000000019964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440356/
https://www.ncbi.nlm.nih.gov/pubmed/32358368
http://dx.doi.org/10.1097/MD.0000000000019964

Ejemplares similares