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Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2015, Volume 212, Issue 3, pp. 281 - 290
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
Human Mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1491 - 1499
Journal Article
Autophagy, ISSN 1554-8627, 07/2008, Volume 4, Issue 5, pp. 590 - 599
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2006, Volume 8, Issue 5, pp. 267 - 288
Journal Article
2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | neuroscience
Book
Movement Disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 598 - 613
ABSTRACT There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly... 
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | EARLY-ONSET ATAXIA | SUSPICION INDEX | GLUT1 DEFICIENCY | FOLLOW-UP | CEREBROTENDINOUS XANTHOMATOSIS | CLINICAL NEUROLOGY | VITAMIN-E-DEFICIENCY | NIEMANN-PICK-DISEASE | BRAIN MANGANESE ACCUMULATION | ORGANIC ACIDURIAS | BASAL GANGLIA DISEASE | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis
Journal Article