Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

Skeletal Radiology

Volumn 43, Issue 3, 2014, Pages 359-369

  Lachman, Ralph S ^a,m   Burton, Barbara K ^b   Clarke, Lorne A ^c   Hoffinger, Scott ^d   Ikegawa, Shiro ^e   Jin, Dong Kyu ^f   Kano, Hiroki ^e   Kim, Ok Hwa ^g   Lampe, Christina ^h   Mendelsohn, Nancy J ⁱ   Shediac, Renée ^j   Tanpaiboon, Pranoot ^k   White, Klane K ^l  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Institute of Physical and Chemical Research   (Japan)

^f Sungkyunkwan University School of Medicine   (South Korea)

^g Ajou University Medical CentSuwon   (South Korea)

^h JOHANNES GUTENBERG UNIVERSITY   (Germany)

ⁱ CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^j BIOMARIN PHARMACEUTICAL INC   (United States)

^k CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^l SEATTLE CHILDREN S HOSPITAL   (United States)

^m International Skeletal Dysplasia Registry   (United States)

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Author keywords

Dysostosis multiplex; Maroteaux Lamy; MED; Morquio; Morquio A; MPS; MPS IVA; MPS VI; Mucopolysaccharidosis; Multiple epiphyseal dysplasia; SED; Spondylo epiphyseal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DELAYED DIAGNOSIS; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DYSOSTOSIS; FEMALE; HAND RADIOGRAPHY; HIP RADIOGRAPHY; HUMAN; MALE; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; OUTCOME ASSESSMENT; PELVIS RADIOGRAPHY; PERTHES DISEASE; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGIST; SPONDYLOEPIPHYSEAL DYSPLASIA; SYMPTOMATOLOGY; THORAX RADIOGRAPHY;

ADOLESCENT; ADULT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUCOPOLYSACCHARIDOSIS VI; YOUNG ADULT;

EID: 84893774288     PISSN: 03642348     EISSN: 14322161     Source Type: Journal    
DOI: 10.1007/s00256-013-1797-y     Document Type: Article

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