A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency

The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemo...

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Detalles Bibliográficos
Autores principales: Ikeda, Naohiro, Maruyama, Shinsuke, Nakano, Kanna, Imakiire, Ryo, Ninomiya, Yumiko, Seki, Shunji, Yanagimoto, Kosuke, Kakihana, Yasuyuki, Hara, Keiichi, Tajima, Go, Okamoto, Yasuhiro, Kawano, Yoshifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429241/
https://www.ncbi.nlm.nih.gov/pubmed/28529889
http://dx.doi.org/10.1016/j.ymgmr.2017.04.010

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