Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 196-201

  Bank, Ruud A ^a,b   Groener, Johanna E M ^c   van Gemund, Justus J ^d   Maaswinkel, Petra D ^d   Hoeben, Kees A ^c   Schut, Herman A ^d   Everts, Vincent ^b  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d Dept of Cell Biology ^*

Author keywords

Cartilage; Collagen; Extra cellular matrix; Glycosaminoglucans; Morquio syndrome; MPS IVA

Indexed keywords

COLLAGEN FIBRIL; DEOXYPYRIDINOLINE; N ACETYLGALACTOSAMINE 6 SULFATASE; PROTEOGLYCAN; PYRIDINOLINE;

ADULT; ARTICLE; ARTICULAR CARTILAGE; BONE EXAMINATION; CARTILAGE CELL; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL BONE; CROSS LINKING; ENZYME DEFICIENCY; EXTRACELLULAR MATRIX; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROXYLATION; MORQUIO SYNDROME; N ACETYLGALACTOSAMINE 6 SULFATASE DEFICIENCY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BONE AND BONES; CARTILAGE, ARTICULAR; CHILD, PRESCHOOL; CHONDROCYTES; CHONDROITINSULFATASES; COLLAGEN; CROSS-LINKING REAGENTS; FATAL OUTCOME; FEMALE; HUMANS; HYDROXYLATION; LYSINE; MUCOPOLYSACCHARIDOSIS IV;

EID: 67349116348     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.008     Document Type: Article

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