تحميل...
The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report
INTRODUCTION: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI—Maroteaux–Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with incr...
محفوظ في:
| الحاوية / القاعدة: | Medicine (Baltimore) |
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| المؤلفون الرئيسيون: | , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Wolters Kluwer Health
2016
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4985337/ https://ncbi.nlm.nih.gov/pubmed/27512882 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000004561 |
| الوسوم: |
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