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Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate i...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5509549/ https://ncbi.nlm.nih.gov/pubmed/27515243 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_2 |
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