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Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 11/2019, Volume 14, Issue 1, pp. 1 - 11
textabstractBackground: Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations... 
Burden of illness | MPS VII | Sly disease | Diagnostic delay | Lysosomal storage disorder | Diagnostic odyssey | Mucopolysaccharidosis type VII | Caregiver burden | Diagnosis | MEDICINE, RESEARCH & EXPERIMENTAL | ETIOLOGY | DISEASE | GENETICS & HEREDITY | NONIMMUNE | LIFE | Surveys | Mucopolysaccharidosis | Hydrops fetalis | Health aspects
Journal Article
LaboratoriumsMedizin, ISSN 0342-3026, 10/2018, Volume 42, Issue 5, pp. 163 - 169
Journal Article
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 704, pp. 59 - 67
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations gene and characterized by progressive skeletal deformities... 
Phenotype | Height | Attenuated form | MPS-IVA | GALNS gene | MORQUIO | VARIANTS | GENOTYPE | GUIDELINES | IDENTIFICATION | N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE | GALNS | HETEROGENEITY | ENZYME | GENETICS & HEREDITY | Genetic research | Medicine, Experimental | Medical research | Mucopolysaccharidosis | Genetic aspects | Diagnosis
Journal Article
Italian journal of pediatrics, ISSN 1720-8424, 11/2018, Volume 44, Issue Suppl 2, pp. 128 - 161
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2012, Volume 106, Issue 1, pp. 73 - 82
Journal Article