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Research Article

Development of a disease-specific disability instrument for Pompe disease

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Pages 77-84 | Published online: 10 Jul 2009

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Maria A. Fragala-Pinkham, Stephen M. Haley & Margaret E. O’Neil. (2011) Group swimming and aquatic exercise programme for children with autism spectrum disorders: A pilot study. Developmental Neurorehabilitation 14:4, pages 230-241.
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Steven Shinn-Forng Peng, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Wen-Hui Tsai & Yin-Hsiu Chien. (2016) Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study. Orphanet Journal of Rare Diseases 11:1.
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Amy Pasternak, Georgios Sideridis, Maria Fragala-Pinkham, Allan M. Glanzman, Jacqueline Montes, Sally Dunaway, Rachel Salazar, Janet Quigley, Shree Pandya, Susan O'Riley, Jonathan Greenwood, Claudia Chiriboga, Richard Finkel, Gihan Tennekoon, William B. Martens, Michael P. McDermott, Heather Szelag Fournier, Lavanya Madabusi, Timothy Harrington, Rosangel E. Cruz, Nicole M. LaMarca, Nancy M. Videon, Darryl C. De Vivo & Basil T. Darras. (2016) Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy. Muscle & Nerve 54:6, pages 1097-1107.
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Laura E. Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John P. Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Phillips, Zachary Spigelman, Cynthia Tifft & Priya S. Kishnani. (2015) Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Neuromuscular Disorders 25:4, pages 321-332.
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Yin-Hsiu Chien, Ni-Chung Lee, Chun-An Chen, Fuu-Jen Tsai, Wen-Hui Tsai, Jeng-Yi Shieh, Hsiang-Ju Huang, Wei-Chung Hsu, Tzu-Hsun Tsai & Wuh-Liang Hwu. (2015) Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth. The Journal of Pediatrics 166:4, pages 985-991.e2.
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K. Vill, J. Schessl, V. Teusch, S. Schroeder, A. Blaschek, B. Schoser & W. Müller-Felber. (2015) Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants. Neuromuscular Disorders 25:2, pages 120-126.
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N.A.M.E. van der Beek, M.L.C. Hagemans, A.T. van der Ploeg, P.A. van Doorn & I.S.J. Merkies. (2013) The Rasch-built Pompe-specific Activity (R-PAct) scale. Neuromuscular Disorders 23:3, pages 256-264.
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Alana Karla Savegnago, Rosângela Maria da Silva, Cíntia Jonhston, Ana Maria Martins, Ana Paula L. de Melo & Werther Brunow de Carvalho. (2012) Revisão sistemática das escalas utilizadas para avaliação funcional na doença de Pompe. Revista Paulista de Pediatria 30:2, pages 272-277.
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Lara W Katzin & Anthony A Amato. (2008) Pompe Disease: A Review of the Current Diagnosis and Treatment Recommendations in the Era of Enzyme Replacement Therapy. Journal of Clinical Neuromuscular Disease 9:4, pages 421-431.
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M.J. Mulcahey, Stephen M. Haley, Theresa Duffy, Ni Pengsheng & Randal R. Betz. (2008) Measuring Physical Functioning in Children With Spinal Impairments With Computerized Adaptive Testing. Journal of Pediatric Orthopaedics 28:3, pages 330-335.
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E. Storch, M. Keeley, L. Merlo, M. Jacob, C. Correia & D. Weinstein. (2008) Psychosocial Functioning in Youth with Glycogen Storage Disease Type I. Journal of Pediatric Psychology 33:7, pages 728-738.
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M.L.C. Hagemans, P. Laforêt, W.J.C. Hop, I.S.J. Merkies, P.A. Van Doorn, A.J.J. Reuser & A.T. Van der Ploeg. (2007) Impact of late-onset Pompe disease on participation in daily life activities: Evaluation of the Rotterdam Handicap Scale. Neuromuscular Disorders 17:7, pages 537-543.
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Massimiliano Rossi, Giancarlo Parenti, Roberto Della Casa, Alfonso Romano, Giuseppina Mansi, Teresa Agovino, Felice Rosapepe, Carlo Vosa, Ennio Del Giudice & Generoso Andria. (2016) Long-Term Enzyme Replacement Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase Derived From Chinese Hamster Ovary Cells. Journal of Child Neurology 22:5, pages 565-573.
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P. S. KishnaniD. CorzoM. NicolinoB. ByrneH. MandelW. L. HwuN. LeslieJ. LevineC. SpencerM. McDonaldJ. LiJ. DumontierM. HalberthalY. H. ChienR. HopkinS. VijayaraghavanD. GruskinD. BartholomewA. van der PloegJ. P. ClancyR. PariniG. MorinM. BeckG. S. De la GastineM. JokicB. ThurbergS. RichardsD. BaliM. DavisonM. A. WordenY. T. ChenJ. E. Wraith. (2007) Recombinant human acid α-glucosidase. Neurology 68:2, pages 99-109.
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You Hoon JeonBaik-Lin EunChang Sung SonDong Hwan Lee. (2007) Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy. Korean Journal of Pediatrics 50:2, pages 213.
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Jerry R. Mendell, Cristina Csimma, Craig M. McDonald, Diana M. Escolar, Scott Janis, John D. Porter, Sharon E. Hesterlee & R. Rodney Howell. (2007) Challenges in drug development for muscle disease: A stakeholders' meeting. Muscle & Nerve 35:1, pages 8-16.
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Stephen M. Haley, Pengsheng Ni, Larry H. Ludlow & Maria A. Fragala-Pinkham. (2006) Measurement Precision and Efficiency of Multidimensional Computer Adaptive Testing of Physical Functioning Using the Pediatric Evaluation of Disability Inventory. Archives of Physical Medicine and Rehabilitation 87:9, pages 1223-1229.
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Stephen M Haley, Maria Fragala-Pinkham & Pengsheng Ni. (2006) Sensitivity of a computer adaptive assessment for measuring functional mobility changes in children enrolled in a community fitness programme. Clinical Rehabilitation 20:7, pages 616-622.
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Priya S Kishnani, Robert D Steiner, Deeksha Bali, Kenneth Berger, Barry J Byrne, Laura E Case, John F Crowley, Steven Downs, R Rodney Howell, Richard M Kravitz, Joanne Mackey, Deborah Marsden, Anna Maria Martins, David S Millington, Marc Nicolino, Gwen O’grady, Marc C Patterson, David M Rapoport, Alfred Slonim, Carolyn T Spencer, Cynthia J Tifft & Michael S Watson. (2006) Pompe disease diagnosis and management guideline. Genetics in Medicine 8:5, pages 267-288.
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Maria A. Fragala-Pinkham, Stephen M. Haley & Shelley Goodgold. (2006) Evaluation of a Community-Based Group Fitness Program for Children With Disabilities. Pediatric Physical Therapy 18:2, pages 159-167.
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Stephen M Haley, Pengsheng Ni, Maria A Fragala-Pinkham, Alison M Skrinar & Deyanira Corzo. (2007) A computer adaptive testing approach for assessing physical functioning in children and adolescents. Developmental Medicine & Child Neurology 47:2, pages 113-120.
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Stephen M. Haley, Maria Fragala-Pinkham, Nancy K. Latham, Alison M. Skrinar & Deborah Cogswell. (2005) The Emerging Role of the Pediatric Physical Therapist in Evaluation and Intervention for Individuals with Lysosomal Storage Diseases. Pediatric Physical Therapy 17:2, pages 128-139.
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Stephen M. Haley, Maria A. Fragala-Pinkham, Peng Sheng Ni, Alison M. Skrinar & Edward M. Kaye. (2004) Pediatric physical functioning reference curves. Pediatric Neurology 31:5, pages 333-341.
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Stephen M Haley, Maria A Fragala & Alison M Skrinar. (2007) Pompe disease and physical disability. Developmental Medicine & Child Neurology 45:9, pages 618-623.
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