Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

Abstract Background Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, bioc...

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Bibliographic Details
Main Authors: Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Pediatrics
Subjects:
Fatty acid oxidation disorders
Newborn screening
Genotype-phenotype correlation
Treatment outcome
Online Access:http://link.springer.com/article/10.1186/s12887-018-1069-z

Internet

http://link.springer.com/article/10.1186/s12887-018-1069-z

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