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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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Izmir Dr. Behcet Uz Children’s Hospital
2019-07-01
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| Serie: | Journal of Behçet Uz Children's Hospital |
| Soggetti: | |
| Accesso online: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=behcetuz&un=BUCHD-62533 |
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