טוען...
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered in the differential diagnosis, and the definitive diagnosis was not made until pathological variants of...
שמור ב:
| הוצא לאור ב: | JIMD Rep |
|---|---|
| Main Authors: | , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer Berlin Heidelberg
2017
|
| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5680287/ https://ncbi.nlm.nih.gov/pubmed/28220409 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_12 |
| תגים: |
הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
|