Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity-Reference-Cited by-同舟云学术

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Published:2017-11 Issue:3 Volume:122 Page:67-75
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tajima Go^ORCID,Hara Keiichi,Tsumura Miyuki,Kagawa Reiko,Okada Satoshi,Sakura Nobuo,Maruyama Shinsuke^ORCID,Noguchi Atsuko,Awaya Tomonari^ORCID,Ishige Mika,Ishige Nobuyuki^ORCID,Musha Ikuma^ORCID,Ajihara Sayaka,Ohtake Akira,Naito Etsuo,Hamada Yusuke,Kono Tomotaka,Asada Tomoko^ORCID,Sasai Hideo,Fukao Toshiyuki,Fujiki Ryoji,Ohara Osamu,Bo Ryosuke,Yamada Kenji^ORCID,Kobayashi Hironori,Hasegawa Yuki,Yamaguchi Seiji,Takayanagi Masaki,Hata Ikue,Shigematsu Yosuke,Kobayashi Masao

Funder

Ministry of Health, Labour and Welfare, Japan

Japan Agency for Medical Research and Development

Morinaga Hoshi-Kai Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria;DiMauro;Science,1973

2. Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants;Kobayashi;Brain Dev.,2013

3. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan;Shigematsu;J. Chromatogr. B Anal. Technol. Biomed. Life Sci.,2002