Results 91 to 100 of about 7,007 (210)

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
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Effectiveness of Neuromuscular Exercises on Static and Dynamic Balance in Male Adolescents with Genu Valgum Deformity [PDF]

مجله دانشگاه علوم پزشکی گرگان
Background and Objective: Given the prevalence of genu valgum deformity and its impact on static and dynamic balance in growing adolescents, this study aimed to determine the effectiveness of neuromuscular exercises on static and dynamic balance of male ...
Nima Djavadi, Mohammadhosein Alizadeh, Amirhosein Barati   +2 more
doaj  

Radiographic knee osteoarthritis in ex-elite table tennis players [PDF]

, 2012
Background Table tennis involves adoption of the semi-flexed knee and asymmetrical torsional trunk movements creating rotational torques on the knee joint which may predispose players to osteoarthritis (OA) of the knee.
Reza Rajabi, Gillian M Johnson, Mohammad H Alizadeh, Nazanin Meghdadi   +3 more
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Pyle metaphyseal dysplasia in an African child: Case report and review of the literature [PDF]

, 2016
Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist ...
Chetty, M., Makubalo, N., Roberts, T., Wonkam, A.   +3 more
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Congestive Heart Failure in a Child with Cohen Syndrome [PDF]

, 2002
O Síndroma de Cohen é uma doença autossómica recessiva, descrita pela primeira vez em 1973, tendo sido publicados desde essa altura cerca de 100 casos. O diagnóstico é baseado no quadro clínico e fenótipo típico.
Bento, AM, Carapau, J
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Cortical-Bone Fragility - Insights from sFRP4 Deficiency in Pyle's Disease [PDF]

, 2016
BACKGROUND Cortical-bone fragility is a common feature in osteoporosis that is linked to non - vertebral fractures. Regulation of cortical-bone homeostasis has proved elusive.
Andrea Superti-Furga, Belinda Campos-Xavier, Brian J. Stevenson, Carlo Rivolta, Cohn M, Eric Hesse, Esra Dikoglu, Fatma Gossiel, Francesca Gori, Gen Nishimura, Hiroaki Saito, Hiroyuki Takita, Jeff Liu, Katta M. Girisha, Kei Yamana, Keith Harshman, Koray Boduroglu, Luisa Bonafé, Nicolas Solban, Pelin O. Simsek Kiper, Poole KE, Pyle E, Richard Eastell, Riku Kiviranta, Robert Brommage, Roland Baron, Sheila Unger   +26 more
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Comparing the Effect of a Fatigue Protocol on Kinematic Gait Parameters in Students With Genu Valgum and Genu Varum and Their Normal Peers

Physical Treatments, 2019
Purpose: The purpose of this study was to compare the effect of a fatigue protocol on some kinematic gait parameters in students with genu valgum, genu varum and normal people.
Mehdi Gheitasi, Mohammad Bayattork, Fariborz Hovanloo, Hamid Porrajab   +3 more
doaj  

Acidose tubular renal tipo I: relato de um caso. [PDF]

, 1983
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Pereira, Leila Denise Cesário
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Development of a prediction model for lower limb deformity in patients with hereditary multiple exostoses based on interpretable models and nomogram

BMC Medical Informatics and Decision Making
Aim To investigate the impact of relevant factors on the occurrence of genu valgum and ankle valgus at admission in patients with hereditary multiple exostoses (HME) based on blood test results from the three months prior to admission, and to develop an ...
Rongbin Lu, He Ling, Zhao Huang, Wencai Li, Junjie Liu, Yonghui Lao, Qian Liu, Xiaofei Ding   +7 more
doaj   +1 more source

Single Level Closed Wedge Osteotomy for Bilateral Genu Valgus with Isolated Tibial Angulation Deformity: A Case Report

Journal of Orthopaedic Case Reports
Introduction: The term “Genu valgus” originates from the Latin “Genu” meaning Knee and “valgus” is bent outward; referring to an outward angular deformity in the knee joint which is commonly seen in children. In Genu Valgus, there is lateral deviation of
Saqib Yasin, Mayank Rajput, Shambhavi Rajiva, L M Gupta   +3 more
doaj   +1 more source