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Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis

Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan degradation. Mucopolysaccharidosis type IX is the rarest form of mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short...

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Détails bibliographiques
Publié dans:JIMD Rep
Auteurs principaux: Kiykim, Ertugrul, Barut, Kenan, Cansever, Mehmet Serif, Zeybek, Cigdem Aktuglu, Zubarioglu, Tanyel, Aydin, Ahmet, Kasapcopur, Ozgur
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059191/
https://ncbi.nlm.nih.gov/pubmed/26122630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_467
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