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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2011, Volume 155, Issue 11, pp. 2669 - 2680
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
Medical archives (Sarajevo, Bosnia and Herzegovina), ISSN 0350-199X, 10/2018, Volume 72, Issue 4, pp. 289 - 291
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 08/2016, Volume 61, Issue 8, pp. 693 - 699
Journal Article
Rheumatic Disease Clinics of North America, ISSN 0889-857X, 05/2013, Volume 39, Issue 2, pp. 431 - 455
Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes.... 
Carpal tunnel syndrome | Hip dysplasia | Joint contractures | Joint stiffness | Dysostosis multiplex | Lysosomal storage diseases | Mucopolysaccharidosis | DIAGNOSIS | JOINT DISEASE | FOLLOW-UP | CARPAL-TUNNEL-SYNDROME | RHEUMATOLOGY | FABRY DISEASE | GAUCHER-DISEASE | MURINE MODEL | PATHOGENIC CASCADES | MUSCULOSKELETAL MANIFESTATIONS | ENZYME REPLACEMENT THERAPY | Osteochondrodysplasias - pathology | Prognosis | Humans | Musculoskeletal Diseases - physiopathology | Lysosomes - enzymology | Bone Diseases, Metabolic - pathology | Musculoskeletal Diseases - diagnosis | Osteonecrosis - pathology | Joints - physiopathology | Musculoskeletal Diseases - enzymology | Hip Contracture - etiology | Mucopolysaccharidoses - diagnosis | Hip Dislocation, Congenital | Pain - etiology | Mucopolysaccharidoses - complications | Mucopolysaccharidoses - physiopathology | Musculoskeletal Diseases - etiology | Hip Contracture - physiopathology | Osteonecrosis - etiology | Mucopolysaccharidoses - enzymology | Hip Joint - pathology | Joint Diseases - pathology | Bone Diseases, Metabolic - etiology | Joints - pathology | Joint Diseases - congenital | Pain - pathology | Osteochondrodysplasias - etiology | Osteochondrodysplasias - physiopathology | Joint Diseases - etiology | Pain - physiopathology | Hip Joint - physiopathology | Hip Contracture - pathology | Bone Diseases, Metabolic - physiopathology | Early Diagnosis | Osteonecrosis - physiopathology | Joint Diseases - physiopathology
Journal Article
Annals of Otology, Rhinology and Laryngology, ISSN 0003-4894, 2003, Volume 112, Issue 2, pp. 153 - 158
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 121 - 135
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1094 - 1101
Journal Article