A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affe...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Hasegawa, Yuki, Ago, Mako, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426073/
https://www.ncbi.nlm.nih.gov/pubmed/28516040
http://dx.doi.org/10.1016/j.ymgmr.2017.04.008

Ejemplares similares

Ejemplares similares