Epidemiology of mucopolysaccharidoses
Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
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TLDR
Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2017-07-01 and is currently open access. It has received 996 citations till now. The article focuses on the topics: Population.read more
Citations
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Patient Innovation: its prevalence, antecedents and impact
TL;DR: The current producer-based and paternalistic healthcare model should be revised, so patients are given the chance of playing a more proactive role, and the variables that emerged as predictors of being an innovator are higher level of education, being unemployed or looking after at home, and Information and Communication Technology readiness.
Journal ArticleDOI
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Antonio González-Meneses,Mercè Pineda,Anabela Bandeira,Patrícia Janeiro,María Ángeles Ruiz,Luísa Diogo,Ramón Cancho-Candela +6 more
TL;DR: In this article, the authors presented a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal, and found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort.
Novel Risk Factors for Type II Diabetes Mellitus and Coronary Heart Disease
TL;DR: This thesis made an attempt to further study two novel risk factors of type II diabetes and coronary heart disease, by studying their role in the pathogenesis and accuracy of disease prediction.
Journal ArticleDOI
Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)
Mattia Di Bartolomeo,Arrigo Pellacani,Sara Negrello,Martina Buchignani,Riccardo Nocini,Gianluca Di Massa,Greta Gianotti,G. Pollastri,Giacomo Colletti,Luigi Chiarini,Alexandre Anesi +10 more
TL;DR: An unusual clinical assessment of conventional ameloblastoma interesting the posterior left mandible of a 35-month-old child affected by HS is described, which represented a suggestive challenge both from a diagnostic and a therapeutic point of view.
Journal ArticleDOI
Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study.
Hidetomi Terai,Koji Tamai,Masatoshi Hoshino,Hiromitsu Toyoda,Akinobu Suzuki,Shinji Takahashi,Yusuke Hori,Akito Yabu,Hiroaki Nakamura +8 more
TL;DR: The cervical myelopathy of LSD patients could be safely and effectively treated with laminoplasty with/without C1 posterior arch resection after eliminating patients with atlantoaxial instability.
References
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Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more