메뉴 건너뛰기




Volumn 3, Issue , 2015, Pages 18-20

A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient

Author keywords

Asymptomatic; Niemann Pick disease type C (NP C); Organomegaly; Splenomegaly

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84930000833     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2015.02.004     Document Type: Article
Times cited : (14)

References (15)
  • 1
    • 84885830296 scopus 로고    scopus 로고
    • Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: Findings from the ZOOM study
    • P. Bauer, D.J. Balding, and H.H. Klünemann Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study Hum. Mol. Genet. 22 2013 4349 4356
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 4349-4356
    • Bauer, P.1    Balding, D.J.2    Klünemann, H.H.3
  • 2
    • 84902135297 scopus 로고    scopus 로고
    • Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: A systematic review
    • O. Bonnot, H. Kluenemann, and F. Sedel Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review Orphanet J. Rare Dis. 9 2014 65
    • (2014) Orphanet J. Rare Dis. , vol.9 , pp. 65
    • Bonnot, O.1    Kluenemann, H.2    Sedel, F.3
  • 3
    • 79959232858 scopus 로고    scopus 로고
    • A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
    • X. Jiang, R. Sidhu, and F.D. Porter A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma J. Lipid Res. 52 2011 1435 1445
    • (2011) J. Lipid Res. , vol.52 , pp. 1435-1445
    • Jiang, X.1    Sidhu, R.2    Porter, F.D.3
  • 4
    • 84893094595 scopus 로고    scopus 로고
    • Miglustat: A review of its use in Niemann-Pick disease type C
    • K.A. Lyseng-Williamson Miglustat: a review of its use in Niemann-Pick disease type C Drugs 74 2014 61 74
    • (2014) Drugs , vol.74 , pp. 61-74
    • Lyseng-Williamson, K.A.1
  • 5
    • 0034987798 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
    • G. Millat, C. Marçais, and C. Tomasetto Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop Am. J. Hum. Genet. 68 2001 1373 1385
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1373-1385
    • Millat, G.1    Marçais, C.2    Tomasetto, C.3
  • 6
    • 82755197370 scopus 로고    scopus 로고
    • Niemann-Pick type C1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding
    • M.S. Deffieu, and S.T. Pfeffer Niemann-Pick type C1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding Proc. Natl. Acad. Sci. U. S. A. 108 2011 18932 18936
    • (2011) Proc. Natl. Acad. Sci. U. S. A. , vol.108 , pp. 18932-18936
    • Deffieu, M.S.1    Pfeffer, S.T.2
  • 7
    • 84862532953 scopus 로고    scopus 로고
    • Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
    • M.C. Patterson, C.J. Hendriksz, and M. Walterfang Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update Mol. Genet. Metab. 106 2012 330 344
    • (2012) Mol. Genet. Metab. , vol.106 , pp. 330-344
    • Patterson, M.C.1    Hendriksz, C.J.2    Walterfang, M.3
  • 8
    • 85009083396 scopus 로고    scopus 로고
    • Disease and patient characteristics in NP-C patients: Findings from an international disease registry
    • M.C. Patterson, E. Mengel, and F.A. Wijburg Disease and patient characteristics in NP-C patients: findings from an international disease registry Orphanet J. Rare Dis. 8 2013 12
    • (2013) Orphanet J. Rare Dis. , vol.8 , pp. 12
    • Patterson, M.C.1    Mengel, E.2    Wijburg, F.A.3
  • 9
    • 78149342830 scopus 로고    scopus 로고
    • Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
    • F.D. Porter, D.E. Scherrer, and M.H. Lanier Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease Sci. Transl. Med. 2 2010 56ra81
    • (2010) Sci. Transl. Med. , vol.2 , pp. 56ra81
    • Porter, F.D.1    Scherrer, D.E.2    Lanier, M.H.3
  • 10
    • 33845910402 scopus 로고    scopus 로고
    • The adult form of Niemann-Pick disease type C
    • M. Sevin, G. Lesca, and N. Baumann The adult form of Niemann-Pick disease type C Brain 130 2007 120 133
    • (2007) Brain , vol.130 , pp. 120-133
    • Sevin, M.1    Lesca, G.2    Baumann, N.3
  • 11
    • 4744373445 scopus 로고    scopus 로고
    • The NPC1 protein: Structure implies function
    • C. Scott, and Y.A. Ioannou The NPC1 protein: structure implies function Biochim. Biophys. Acta 1685 2004 8 13
    • (2004) Biochim. Biophys. Acta , vol.1685 , pp. 8-13
    • Scott, C.1    Ioannou, Y.A.2
  • 13
  • 15
    • 67849098806 scopus 로고    scopus 로고
    • Recommendations on the diagnosis and management of Niemann-Pick disease type C
    • J.E. Wraith, M.R. Baumgartner, and B. Bembi Recommendations on the diagnosis and management of Niemann-Pick disease type C Mol. Genet. Metab. 98 2009 152 165
    • (2009) Mol. Genet. Metab. , vol.98 , pp. 152-165
    • Wraith, J.E.1    Baumgartner, M.R.2    Bembi, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.