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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Detalhes bibliográficos

Principais autores:	Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2020-09-01
coleção:	Molecular Genetics and Metabolism Reports
Assuntos:	Carnitine palmitoyltransferase II deficiency Metabolic decompensation Fatty acid oxidation disorders Sudden unexpected death in infancy (SUDI)
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426920300574
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