טוען...
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
OBJECTIVE: The implementation of newborn screening (NBS) programs for citrullinemia type 1 (CTLN1) and argininosuccinic aciduria (ASA) is subject to controversial debate. The aim of this study is to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individuals...
שמור ב:
| הוצא לאור ב: | Mol Genet Metab |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8315358/ https://ncbi.nlm.nih.gov/pubmed/33288448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.10.013 |
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