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Nonketotic Hyperglycinemia of Infants in Taiwan

Nonketotic hyperglycinemia (NKH) is a rare, inherited disease, with very poor outcome. It is difficult to confirm the diagnosis due to nonspecific presentations and rapid progression. The incidence was reported in a few countries. We report the clinical and genetic features of typical neonatal NKH w...

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Principais autores: Chiao-Fan Chiu, Ju-Li Lin, Jainn-Jim Lin, Min-Hua Tseng, Fu-Sung Lo, Ming-Chou Chiang
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2016-10-01
Series:Pediatrics and Neonatology
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Acceso en liña:http://www.sciencedirect.com/science/article/pii/S1875957216000218
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