메뉴 건너뛰기




Volumn 2014, Issue , 2014, Pages

Orthopedic management of patients with pompe disease: A retrospective case series of 8 patients

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY POSTURE; CASE STUDY; CHILD; CLINICAL ARTICLE; CONSULTATION; FEMALE; FEMUR FRACTURE; FOOT MALFORMATION; GLYCOGEN STORAGE DISEASE TYPE 2; HIP CONTRACTURE; HIP DYSPLASIA; HIP SURGERY; HUMAN; KNEE DISEASE; LIMB WEAKNESS; MALE; MIDDLE AGED; MUSCULOSKELETAL DISEASE; NEUROMUSCULAR DISEASE; ORTHOPEDIC SURGERY; PEDICLE SCREW; PHYSIOTHERAPY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOLIOSIS; SHOULDER DISLOCATION; SITTING; SPINE FIXATION DEVICE; SPINE STABILIZATION; YOUNG ADULT; CASE REPORT; FRACTURE; RADIOGRAPHY; TREATMENT OUTCOME;

EID: 84893206138     PISSN: None     EISSN: 1537744X     Source Type: Journal    
DOI: 10.1155/2014/963861     Document Type: Article
Times cited : (12)

References (28)
  • 1
    • 84857066318 scopus 로고    scopus 로고
    • Consensus treatment recommendations for late-onset pompe disease
    • 2-s2.0-84857066318 10.1002/mus.22329
    • Cupler E. J., Berger K. I., Leshner R. T., Wolfe G. I., Han J. J., Barohn R. J., Kissel J. T., Consensus treatment recommendations for late-onset pompe disease. Muscle and Nerve 2012 45 3 319 333 2-s2.0-84857066318 10.1002/mus.22329
    • (2012) Muscle and Nerve , vol.45 , Issue.3 , pp. 319-333
    • Cupler, E.J.1    Berger, K.I.2    Leshner, R.T.3    Wolfe, G.I.4    Han, J.J.5    Barohn, R.J.6    Kissel, J.T.7
  • 2
    • 84856227172 scopus 로고    scopus 로고
    • The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
    • 2-s2.0-84856227172 10.1002/ajmg.c.31324
    • Kishnani P. S., Beckemeyer A. A., Mendelsohn N. J., The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. American Journal of Medical Genetics C 2012 160 1 1 7 2-s2.0-84856227172 10.1002/ajmg.c.31324
    • (2012) American Journal of Medical Genetics C , vol.160 , Issue.1 , pp. 1-7
    • Kishnani, P.S.1    Beckemeyer, A.A.2    Mendelsohn, N.J.3
  • 4
    • 33646830132 scopus 로고    scopus 로고
    • A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
    • DOI 10.1016/j.jpeds.2005.11.033, PII S0022347605011273
    • Kishnani P. S., Hwu W.-L., Mandel H., Nicolino M., Yong F., Corzo D., Infantile-onset Pompe disease natural history study G: a retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. The Journal of Pediatrics 2006 148 5 671 676 2-s2.0-33646830132 10.1016/j.jpeds.2005.11.033 (Pubitemid 43776899)
    • (2006) Journal of Pediatrics , vol.148 , Issue.5 , pp. 671-676
    • Kishnani, P.S.1    Hwu, W.-L.2    Mandel, H.3    Nicolino, M.4    Yong, F.5    Corzo, D.6
  • 6
    • 2342537868 scopus 로고    scopus 로고
    • Pompe disease in infants and children
    • DOI 10.1016/j.jpeds.2004.01.053
    • Kishnani P. S., Howell R. R., Pompe disease in infants and children. The Journal of Pediatrics 2004 144 5 S35 S43 2-s2.0-2342537868 10.1016/j.jpeds.2004. 01.053 (Pubitemid 38591273)
    • (2004) Journal of Pediatrics , vol.144 , Issue.SUPPL.
    • Kishnani, P.S.1    Howell, R.R.2
  • 12
    • 53449093327 scopus 로고    scopus 로고
    • Pompe's disease
    • 2-s2.0-53449093327 10.1016/S0140-6736(08)61555-X
    • van der Ploeg A. T., Reuser A. J., Pompe's disease. The Lancet 2008 372 9646 1342 1353 2-s2.0-53449093327 10.1016/S0140-6736(08)61555-X
    • (2008) The Lancet , vol.372 , Issue.9646 , pp. 1342-1353
    • Van Der Ploeg, A.T.1    Reuser, A.J.2
  • 13
    • 84856223173 scopus 로고    scopus 로고
    • Infantile Pompe disease on ERT: Update on clinical presentation, musculoskeletal management, and exercise considerations
    • 2-s2.0-84856223173 10.1002/ajmg.c.31321
    • Case L. E., Beckemeyer A. A., Kishnani P. S., Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. American Journal of Medical Genetics C 2012 160 1 69 79 2-s2.0-84856223173 10.1002/ajmg.c.31321
    • (2012) American Journal of Medical Genetics C , vol.160 , Issue.1 , pp. 69-79
    • Case, L.E.1    Beckemeyer, A.A.2    Kishnani, P.S.3
  • 14
    • 33745625409 scopus 로고    scopus 로고
    • Physical therapy management of Pompe disease
    • DOI 10.1097/01.gim.0000217789.14470.c5, PII 0012581720060500000007
    • Case L. E., Kishnani P. S., Physical therapy management of Pompe disease. Genetics in Medicine 2006 8 5 318 327 2-s2.0-33745625409 10.1097/01.gim. 0000217789.14470.c5 (Pubitemid 44297320)
    • (2006) Genetics in Medicine , vol.8 , Issue.5 , pp. 318-327
    • Case, L.E.1    Kishnani, P.S.2
  • 15
    • 82255191641 scopus 로고    scopus 로고
    • The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe registry
    • 2-s2.0-82255191641 10.1016/j.ymgme.2011.08.011
    • Roberts M., Kishnani P. S., van der Ploeg A. T., Müller-Felber W., Merlini L., Prasad S., Case L. E., The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe registry. Molecular Genetics and Metabolism 2011 104 4 574 582 2-s2.0-82255191641 10.1016/j.ymgme.2011.08.011
    • (2011) Molecular Genetics and Metabolism , vol.104 , Issue.4 , pp. 574-582
    • Roberts, M.1    Kishnani, P.S.2    Van Der Ploeg, A.T.3    Müller-Felber, W.4    Merlini, L.5    Prasad, S.6    Case, L.E.7
  • 16
    • 15044356217 scopus 로고    scopus 로고
    • Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
    • DOI 10.1093/brain/awh384
    • Hagemans M. L. C., Winkel L. P. F., van Doorn P. A., Hop W. J. C., Loonen M. C. B., Reuser A. J. J., van der Ploeg A. T., Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005 128 3 671 677 2-s2.0-15044356217 10.1093/brain/awh384 (Pubitemid 40380201)
    • (2005) Brain , vol.128 , Issue.3 , pp. 671-677
    • Hagemans, M.L.C.1    Winkel, L.P.F.2    Van Doorn, P.A.3    Hop, W.J.C.4    Loonen, M.C.B.5    Reuser, A.J.J.6    Van Der Ploeg, A.T.7
  • 21
    • 2942548954 scopus 로고    scopus 로고
    • Anaesthetic management of infants with glycogen storage disease type II: A physiological approach
    • DOI 10.1111/j.1460-9592.2004.01242.x
    • Ing R. J., Cook D. R., Bengur R. A., Williams E. A., Eck J., Dear G. D. L., Ross A. K., Kern F. H., Kishnani P. S., Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatric Anaesthesia 2004 14 6 514 519 2-s2.0-2942548954 10.1111/j.1460-9592.2004.01242.x (Pubitemid 38758675)
    • (2004) Paediatric Anaesthesia , vol.14 , Issue.6 , pp. 514-519
    • Ing, R.J.1    Cook, D.R.2    Bengur, R.A.3    Williams, E.A.4    Eck, J.5    Dear, G.D.L.6    Ross, A.K.7    Kern, F.H.8    Kishnani, P.S.9
  • 22
    • 0031037962 scopus 로고    scopus 로고
    • The rigid spine syndrome due to acid maltase deficiency
    • DOI 10.1002/(SICI)1097-4598(199703)20:3<364 ::AID-MUS16>3.0.CO;2-0
    • Fadic R., Waclawik A. J., Brooks B. R., Lotz B. P., The rigid spine syndrome due to acid maltase deficiency. Muscle & Nerve 1997 20 364 366 (Pubitemid 27108157)
    • (1997) Muscle and Nerve , vol.20 , Issue.3 , pp. 364-366
    • Fadic, R.1    Waclawik, A.J.2    Brooks, B.R.3    Lotz, B.P.4
  • 27
    • 82455188056 scopus 로고    scopus 로고
    • Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease
    • 2-s2.0-82455188056 10.1016/j.ymgme.2011.05.006
    • Jones H. N., Moss T., Edwards L., Kishnani P. S., Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease. Molecular Genetics and Metabolism 2011 104 3 417 420 2-s2.0-82455188056 10.1016/j.ymgme.2011.05.006
    • (2011) Molecular Genetics and Metabolism , vol.104 , Issue.3 , pp. 417-420
    • Jones, H.N.1    Moss, T.2    Edwards, L.3    Kishnani, P.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.