Φορτώνει......
Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy
Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later o...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Pediatr Neurosci |
|---|---|
| Κύριοι συγγραφείς: | , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Medknow Publications & Media Pvt Ltd
2018
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6144596/ https://ncbi.nlm.nih.gov/pubmed/30271473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_79_17 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|