| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 11010891 | Molecular Genetics and Metabolism | 2018 | 95 Pages |
Abstract
In this review article, we comprehensively describe clinical, radiographic, biochemical, and molecular diagnosis and clinical assessment tests for MPS IVA. We also compare MPS IVA to other closely related disorders to differentiate MPS IVA. Overall, imbalance of growth in MPS IVA patients underlies unique skeletal manifestations leading to a critical indicator for diagnosis.
Keywords
BMDMucopolysaccharidosesGAGIOCFETCDCHSCTTLCMVVFunctional dexterity testPFTFVCDXAECMFDTLDFABRmucopolysaccharidosis IVADMMBLSDSMCDMCSDBGM1-gangliosidosisVRAFEV1DBSN-acetylgalactosamine-6-sulfate sulfataseC6SADLMPS IVAGM16-MWTPulmonary function tests6-minute walk testenzyme replacement therapylysosomal storage disordersElectrocardiographyECGMRIITTBone mineral densityEnzyme-linked immunosorbent assayELISAMagnetic resonance imagingWhole bodysleep disordered breathingcomputed tomographydual energy X-ray absorptiometryMaximum voluntary ventilationRange of motiondimethylmethylene blueSpondyloepiphyseal dysplasiaROMWorld Health OrganizationLumbar spineGALNSMorquio A syndromeKeratan sulfateDermatan sulfateVital capacityforced vital capacityTotal lung capacityActivity of daily livingIntent-to-treatExtracellular matrixCerebrospinal fluidCSFCenters for Disease Control and PreventionDried blood spotMPsERTHeparan sulfateauditory brainstem responseHematopoietic stem cell transplantationChondroitin-6-sulfateWHOGlycosaminoglycans
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Authors
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao,