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

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, biochemical...

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Detalles Bibliográficos
Autores principales: Kang, Eungu, Kim, Yoon-Myung, Kang, Minji, Heo, Sun-Hee, Kim, Gu-Hwan, Choi, In-Hee, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842515/
https://www.ncbi.nlm.nih.gov/pubmed/29519241
http://dx.doi.org/10.1186/s12887-018-1069-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842515/
https://www.ncbi.nlm.nih.gov/pubmed/29519241
http://dx.doi.org/10.1186/s12887-018-1069-z

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