Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening

In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form of CPTII deficiency showed severe neurodevelopmental...

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Detalles Bibliográficos
Autores principales: Bo, Ryosuke, Musha, Ikuma, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Awano, Hiroyuki, Arao, Masato, Kikuchi, Toru, Taketani, Takeshi, Ohtake, Akira, Yamaguchi, Seiji, Iijima, Kazumoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260588/
https://www.ncbi.nlm.nih.gov/pubmed/32489884
http://dx.doi.org/10.1016/j.ymgmr.2020.100611

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