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A Case Report of Homocystinuria With Dystonia and Stroke
Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complic...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Child Neurol Open |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
SAGE Publications
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5417037/ https://ncbi.nlm.nih.gov/pubmed/28503581 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X14545870 |
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