Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency (HSD), an autosomal recessive biotin cycle disorder, is caused by holocarboxylase synthetase (HLCS) genetic variants, resulting in multiple carboxylase deficiency. Catabolic stress can induce metabolic crises in patients with HSD. Although pharmacological doses...

Descripción completa

Detalles Bibliográficos
Autores principales: Meguro, Miyu, Wada, Yoichi, Kisou, Yurina, Sugawara, Chihiro, Akimoto, Yoshihiro, Kure, Shigeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563324/
https://www.ncbi.nlm.nih.gov/pubmed/36245960
http://dx.doi.org/10.1016/j.ymgmr.2022.100923

Ejemplares similares

Ejemplares similares