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...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Hasegawa, Yuki, Ago, Mako, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5426073/
https://ncbi.nlm.nih.gov/pubmed/28516040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.04.008
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