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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4985337/ https://www.ncbi.nlm.nih.gov/pubmed/27512882 http://dx.doi.org/10.1097/MD.0000000000004561 |