Overcoming the barriers to diagnosis of Morquio A syndrome

被引:0
作者
Kaustuv Bhattacharya
Shanti Balasubramaniam
Yew Sing Choy
Michael Fietz
Antony Fu
Dong Kyu Jin
Ok-Hwa Kim
Motomichi Kosuga
Young Hee Kwun
Anita Inwood
Hsiang-Yu Lin
Jim McGill
Nancy J Mendelsohn
Torayuki Okuyama
Hasri Samion
Adeline Tan
Akemi Tanaka
Verasak Thamkunanon
Teck-Hock Toh
Albert D Yang
Shuan-Pei Lin
机构
[1] The Children’s Hospital at Westmead,Genetic Metabolic Disorders Service
[2] Metabolic Unit,Department of Pediatrics
[3] Princess Margaret Children’s Hospital,Department of Radiology
[4] Prince Court Medical Center,Department of Laboratory Medicine
[5] SA Pathology (at Women’s and Children’s Hospital),Department of Metabolic Medicine
[6] Prince of Wales Hospital,Department of Pediatrics
[7] Samsung Medical Center,Department of Paediatrics and Clinical Research Centre
[8] Woorisoa Children’s Hospital,undefined
[9] National Center for Child Health and Development,undefined
[10] Royal Children’s Hospital,undefined
[11] Mackay Memorial Hospital,undefined
[12] Children’s Hospitals & Clinics of Minnesota,undefined
[13] National Heart Institute,undefined
[14] Ipoh Specialist Hospital,undefined
[15] Osaka City University Graduate School of Medicine,undefined
[16] Queen Sirikit National Institute of Child Health,undefined
[17] Sibu Hospital,undefined
[18] Changhua Christian Hospital,undefined
来源
Orphanet Journal of Rare Diseases | / 9卷
关键词
Mucopolysaccharidosis; Morquio A syndrome; Diagnosis; Skeletal dysplasia; Asia Pacific;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 288 条
[1]  
Di Ferrante N(1978)Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses Science 199 79-81
[2]  
Ginsberg LC(1976)The enzymatic defects in Morquio and Maroteaux-Lamy syndrome Adv Exp Med Biol 68 261-276
[3]  
Donnelly PV(1982)Impaired degradation of keratan sulphate by Morquio A fibroblasts Biochem J 203 335-338
[4]  
Di Ferrante DT(1995)The mucopolysaccharidoses: a clinical review and guide to management Arch Dis Child 72 263-267
[5]  
Caskey CT(2014)Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey Orphanet J Rare Dis 7 32-174
[6]  
Dorfman A(2007)International Morquio A registry: clinical manifestation and natural course of Morquio A disease J Inherit Metab Dis 30 165-64
[7]  
Arbogast B(2014)Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA Orphanet J Rare Dis 9 21-307
[8]  
Matalon R(2013)Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA Mol Genet Metab 110 54-322
[9]  
Glössl J(2013)Diagnosing mucopolysaccharidosis IVA J Inherit Metab Dis 36 293-365
[10]  
Kresse H(2013)Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA J Inherit Metab Dis 36 309-61