Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | JIMD Rep |
|---|---|
| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Berlin Heidelberg
2016
|
| Θέματα: | |
| Διαθέσιμο Online: | 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 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|