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Inborn errors of metabolism: a three-year experience

INTRODUCTION: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM).The neonate who is, usually, born healthy at birth, will present symptoms such as a reduced activit...

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Hlavní autoři: Ferit Kulalı, Melis Köse, Tuğçe Candan Çelik, Ezgi Yangın Ergon, Oğuz Han Kalkanlı, Rüya Çolak, Meral Yıldız, Senem Alkan Özdemir, Tülin Gökmen Yıldırım, Şebnem Çalkavur
Médium: Artigo
Jazyk:Inglês
Vydáno: Izmir Dr. Behcet Uz Children’s Hospital 2019-07-01
Edice:Journal of Behçet Uz Children's Hospital
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On-line přístup:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=behcetuz&un=BUCHD-62533
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