Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening-Reference-Cited by-同舟云学术

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Published:2018-09 Issue: Volume:16 Page:5-10
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Shibata Naoaki,Hasegawa Yuki,Yamada Kenji^ORCID,Kobayashi Hironori,Purevsuren Jamiyan,Yang Yanling,Dung Vu Chi,Khanh Nguyen Ngoc,Verma Ishwar C.,Bijarnia-Mahay Sunita,Lee Dong Hwan,Niu Dau-Ming,Hoffmann Georg F.,Shigematsu Yosuke,Fukao Toshiyuki,Fukuda Seiji,Taketani Takeshi,Yamaguchi Seiji

Funder

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labour, and Welfare

AMED

Dietmar Hopp Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference31 articles.

1. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N. Engl. J. Med.,2003

2. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry;Dionisi-Vici;J. Inherit. Metab. Dis.,2006

3. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease;Landau;J. Inherit. Metab. Dis.,2017

4. Efficacy and outcome of expanded newborn screening for metabolic diseases—report of 10 years from south-West Germany;Lindner;Orphanet J. Rare Dis.,2011

5. Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan;Yamaguchi;Jpn. J. Mass Screening.,2013

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