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...

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Detalles Bibliográficos
Autores principales: Kaissi, Ali Al, Hofstaetter, Jochen, Weigel, Gerlinde, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
5100
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

Internet

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

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