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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
Journal Article
Bone, ISSN 8756-3282, 2012, Volume 53, Issue 1, pp. 248 - 258
Abstract Spondylocostal dysostosis (SCDO) is a genetic disorder characterized by severe malformation of the axial skeleton. Mesp2 encodes a basic... 
Orthopedics | Spondylocostal dysostosis | Vertebrae | Skeletal development | Spondylothoracic dysostosis | The segmentation clock | HES7 | TGF-BETA | NOTOCHORD | NOTCH | SOMITE SEGMENTATION | INDIAN HEDGEHOG | CHONDROCYTE DIFFERENTIATION | ABNORMAL VERTEBRAL SEGMENTATION | LUNATIC-FRINGE GENE | ENDOCRINOLOGY & METABOLISM | DYNAMIC EXPRESSION | Ribs - physiopathology | Tomography, X-Ray Computed | Contracture - genetics | Dysostoses - physiopathology | Ribs - abnormalities | Spine - abnormalities | Heart Defects, Congenital - genetics | Osteochondrodysplasias - genetics | Abnormalities, Multiple - genetics | Hernia, Diaphragmatic - physiopathology | Contracture - physiopathology | Disease Models, Animal | Basic Helix-Loop-Helix Transcription Factors - physiology | Dysostoses - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Hernia, Diaphragmatic - genetics | Spine - physiopathology | Abnormalities, Multiple - physiopathology | Mice, Knockout | Bone and Bones - physiopathology | Osteochondrodysplasias - physiopathology | Animals | Fluorescent Antibody Technique | Heart Defects, Congenital - physiopathology | Mice | Transforming growth factors | Developmental biology | Genetic transcription | Cell proliferation | Pattern formation | Transcription factors | somites | Image processing | Spine | Insertion | Dysostosis | Transforming growth factor- beta | Bone (axial) | Ossification | Computed tomography | Chondrocytes | Bone morphogenetic proteins | Extracellular matrix | Helix-loop-helix proteins | Differentiation | Immunofluorescence
Journal Article
Disability and Rehabilitation, ISSN 0963-8288, 04/2019, Volume 41, Issue 9, pp. 1079 - 1088
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1358 - 1363
Journal Article