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Volumn 27, Issue 12, 2012, Pages 1541-1546

Niemann-pick disease type C: Implications for sedation and anesthesia for diagnostic procedures

Author keywords

anesthesia; cholesterol; neurodegeneration; Niemann Pick disease type C

Indexed keywords

ANESTHETIC AGENT; ANTICONVULSIVE AGENT; CHLORPROMAZINE; MIDAZOLAM; NITROUS OXIDE; NPC1 PROTEIN; PENTOBARBITAL; PETHIDINE; PROPOFOL; PROTEIN; SEVOFLURANE; UNCLASSIFIED DRUG;

EID: 84870216729     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812437243     Document Type: Article
Times cited : (12)

References (23)
  • 2
    • 67849098806 scopus 로고    scopus 로고
    • Recommendations on the diagnosis and management of Niemann-Pick disease type C
    • Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009 ; 98 (1-2). 152-165
    • (2009) Mol Genet Metab , vol.98 , Issue.12 , pp. 152-165
    • Wraith, J.E.1    Baumgartner, M.R.2    Bembi, B.3
  • 3
    • 70349742377 scopus 로고    scopus 로고
    • Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
    • Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009 ; 98 (3). 250-254
    • (2009) Mol Genet Metab , vol.98 , Issue.3 , pp. 250-254
    • Wraith, J.E.1    Guffon, N.2    Rohrbach, M.3
  • 4
    • 77953019480 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 ; 5: 16
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 16
    • Vanier, M.T.1
  • 5
    • 77649338413 scopus 로고    scopus 로고
    • Miglustat in adult and juvenile patients with Niemann-Pick disease type C: Long-term data from a clinical trial
    • Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010 ; 99 (4). 351-357
    • (2010) Mol Genet Metab , vol.99 , Issue.4 , pp. 351-357
    • Wraith, J.E.1    Vecchio, D.2    Jacklin, E.3
  • 6
    • 73949159934 scopus 로고    scopus 로고
    • Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C
    • Yanjanin NM, Velez JI, Gropman A, et al. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2010 ; 153B (1). 132-140
    • (2010) Am J Med Genet B Neuropsychiatr Genet , vol.153 , Issue.1 , pp. 132-140
    • Yanjanin, N.M.1    Velez, J.I.2    Gropman, A.3
  • 7
    • 77649249576 scopus 로고    scopus 로고
    • Long-term miglustat therapy in children with Niemann-Pick disease type C
    • Patterson MC, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. 2010 ; 25 (3). 300-305
    • (2010) J Child Neurol , vol.25 , Issue.3 , pp. 300-305
    • Patterson, M.C.1    Vecchio, D.2    Jacklin, E.3
  • 8
    • 0344875214 scopus 로고    scopus 로고
    • A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C
    • DOI 10.1097/01.nrl.0000094627.78754.5b
    • Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist. 2003 ; 9 (6). 301-310 (Pubitemid 37484849)
    • (2003) Neurologist , vol.9 , Issue.6 , pp. 301-310
    • Patterson, M.C.1
  • 9
    • 1542719049 scopus 로고    scopus 로고
    • The niemann-pick disease genes: Regulators of cellular cholesterol homeostasis
    • DOI 10.1016/j.tcm.2003.12.003, PII S1050173803001956
    • Ory DS. The Niemann-Pick disease genes: regulators of cellular cholesterol homeostasis. Trends Cardiovasc Med. 2004 ; 14 (2). 66-72 (Pubitemid 38340849)
    • (2004) Trends in Cardiovascular Medicine , vol.14 , Issue.2 , pp. 66-72
    • Ory, D.S.1
  • 10
    • 1242316279 scopus 로고    scopus 로고
    • Niemann-Pick Type C Disease and Alzheimer's Disease: The APP-Endosome Connection Fattens Up
    • Nixon RA. Niemann-Pick Type C disease and Alzheimer's disease: the APP-endosome connection fattens up. Am J Pathol. 2004 ; 164 (3). 757-761 (Pubitemid 38235457)
    • (2004) American Journal of Pathology , vol.164 , Issue.3 , pp. 757-761
    • Nixon, R.A.1
  • 12
    • 34547753513 scopus 로고    scopus 로고
    • Miglustat for treatment of Niemann-Pick C disease: A randomised controlled study
    • DOI 10.1016/S1474-4422(07)70194-1, PII S1474442207701941
    • Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 ; 6 (9). 765-772 (Pubitemid 47238662)
    • (2007) Lancet Neurology , vol.6 , Issue.9 , pp. 765-772
    • Patterson, M.C.1    Vecchio, D.2    Prady, H.3    Abel, L.4    Wraith, J.E.5
  • 14
    • 0036932577 scopus 로고    scopus 로고
    • Niemann-Pick disease: A rare problem in anaesthesiological practice
    • DOI 10.1046/j.1460-9592.2002.00922.x
    • Bujok LS, Bujok G, Knapik P. Niemann-Pick disease: a rare problem in anaesthesiological practice. Paediatr Anaesth. 2002 ; 12 (9). 806-808 (Pubitemid 36051351)
    • (2002) Paediatric Anaesthesia , vol.12 , Issue.9 , pp. 806-808
    • Bujok, L.-S.1    Bujok, G.2    Knapik, P.3
  • 15
    • 77957226432 scopus 로고    scopus 로고
    • Oxidative stress in Niemann-Pick disease, type C
    • Fu R, Yanjanin NM, Bianconi S, et al. Oxidative stress in Niemann-Pick disease, type C. Mol Genet Metab. 2010 ; 101 (2-3). 214-218
    • (2010) Mol Genet Metab , vol.101 , Issue.23 , pp. 214-218
    • Fu, R.1    Yanjanin, N.M.2    Bianconi, S.3
  • 16
    • 79251560973 scopus 로고    scopus 로고
    • Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: A cross-sectional study
    • Mattsson N, Zetterberg H, Bianconi S, et al. Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology. 2011 ; 76 (4). 366-372
    • (2011) Neurology , vol.76 , Issue.4 , pp. 366-372
    • Mattsson, N.1    Zetterberg, H.2    Bianconi, S.3
  • 17
    • 0031467851 scopus 로고    scopus 로고
    • Liver biopsies in patients with lysosomal storage disease: Experience with effective sedation
    • Grewal RP, Yu KT, Barton NW, et al. Liver biopsies in patients with lysosomal storage disease: experience with effective sedation. Indian J Pediatr. 1997 ; 64 (6). 887-891
    • (1997) Indian J Pediatr , vol.64 , Issue.6 , pp. 887-891
    • Grewal, R.P.1    Yu, K.T.2    Barton, N.W.3
  • 19
    • 34548094669 scopus 로고    scopus 로고
    • Repetitive generalized seizure-like activity during emergence from sevoflurane anesthesia
    • Mohanram A, Kumar V, Iqbal Z, et al. Repetitive generalized seizure-like activity during emergence from sevoflurane anesthesia. Can J Anaesth. 2007 ; 54 (8). 657-661 (Pubitemid 47288143)
    • (2007) Canadian Journal of Anesthesia , vol.54 , Issue.8 , pp. 657-661
    • Mohanram, A.1    Kumar, V.2    Iqbal, Z.3    Markan, S.4    Pagel, P.S.5
  • 20
    • 16244421703 scopus 로고    scopus 로고
    • Sevoflurane and epileptiform EEG changes
    • DOI 10.1111/j.1460-9592.2004.01538.x
    • Constant I, Seeman R, Murat I. Sevoflurane and epileptiform EEG changes. Paediatr Anaesth. 2005 ; 15 (4). 266-274 (Pubitemid 40462800)
    • (2005) Paediatric Anaesthesia , vol.15 , Issue.4 , pp. 266-274
    • Constant, I.1    Seeman, R.2    Murat, I.3
  • 21
    • 73949101931 scopus 로고    scopus 로고
    • Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis
    • Griese M, Brasch F, Aldana VR, et al. Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet. 77 (2). 119-130
    • Clin Genet , vol.77 , Issue.2 , pp. 119-130
    • Griese, M.1    Brasch, F.2    Aldana, V.R.3
  • 22
    • 77953307044 scopus 로고    scopus 로고
    • Risks of propofol sedation/anesthesia for imaging studies in pediatric research: Eight years of experience in a clinical research center
    • Kiringoda R, Thurm AE, Hirschtritt ME, et al. Risks of propofol sedation/anesthesia for imaging studies in pediatric research: eight years of experience in a clinical research center. Arch Pediatr Adolesc Med. 2010 ; 164 (6). 554-560
    • (2010) Arch Pediatr Adolesc Med , vol.164 , Issue.6 , pp. 554-560
    • Kiringoda, R.1    Thurm, A.E.2    Hirschtritt, M.E.3
  • 23
    • 21644456482 scopus 로고    scopus 로고
    • Morbidity and mortality related to anesthesia outside the operating room
    • Melloni C. Morbidity and mortality related to anesthesia outside the operating room. Minerva Anestesiol. 2005 ; 71 (6). 325-334 (Pubitemid 40932280)
    • (2005) Minerva Anestesiologica , vol.71 , Issue.6 , pp. 325-334
    • Melloni, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.