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...
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| Main Authors: | , , , |
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| Format: | Text |
| Language: | English |
| Published: |
Springer Berlin Heidelberg
2016
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| Subjects: | |
| Online Access: | https://pmc.ncbi.nlm.nih.gov/articles/PMC5509549/ https://pubmed.ncbi.nlm.nih.gov/27515243 http://dx.doi.org/10.1007/8904_2016_2 |
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