Hostname: page-component-76fb5796d-zzh7m Total loading time: 0 Render date: 2024-04-26T14:19:55.282Z Has data issue: false hasContentIssue false
  • English
  • Français

Niemann Pick C: First Case in a Canadian Nakoda Nation Child

Published online by Cambridge University Press:  20 October 2014

Aneal Khan ,
Colleen Curtis ,
Harvey B. Sarnat ,
Alfredo Pinto-Rojas ,
Khemissa Bejaoui ,
Xing-Chang Wei  and
Robin Casey
Aneal Khan
Affiliation:
Medical Genetics and Pediatrics, Calgary, Alberta, Canada University of Calgary, Calgary, Alberta, Canada
Colleen Curtis
Affiliation:
Alberta Children's Hospital, Calgary, Alberta, Canada
Harvey B. Sarnat
Affiliation:
Neuropathology and Clinical Neurosciences, Calgary, Alberta, Canada
Alfredo Pinto-Rojas
Affiliation:
Pathology, Calgary, Alberta, Canada
Khemissa Bejaoui
Affiliation:
PreventionGenetics, Marshfield, Wisconsin, USA
Xing-Chang Wei
Affiliation:
Diagnostic Imaging, Calgary, Alberta, Canada
Robin Casey
Affiliation:
Medical Genetics and Pediatrics, Calgary, Alberta, Canada University of Calgary, Calgary, Alberta, Canada
Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Brief Communications
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 4 , July 2014 , pp. 518 - 521
Copyright
Copyright © The Canadian Journal of Neurological 2014

References

1.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 Nov;98(3):250–4.CrossRefGoogle Scholar
2.Heron, B, Ogier, H.Niemann-Pick type C disease: clinical presentations in pediatric patients. Arch Pediatr. 2010;17 Suppl 2:S45–9.CrossRefGoogle ScholarPubMed
3.Vanier, MT.Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.CrossRefGoogle ScholarPubMed
4.Miller, WL, Bose, HS.Early steps in steroidogenesis: intracellular cholesterol trafficking. J Lipid Res. 2011;52(12):2111–35.CrossRefGoogle ScholarPubMed
5.Harzer, K, Kustermann-Kuhn, B.Quantified increases of cholesterol, total lipid and globotriaosylceramide in filipin-positive Niemann-Pick type C fibroblasts. Clin Chim Acta. 2001;305(1–2):65–73.CrossRefGoogle ScholarPubMed
6.Nicholson, AG, Florio, R, Hansell, DM, et al. Pulmonary involvement by Niemann-Pick disease. A report of six cases. Histopathology. 2006;48(5):596–603.CrossRefGoogle ScholarPubMed
7.Neville, BG, Lake, BD, Stephens, R, Sanders, MD.A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain. 1973;96(1):97–120.CrossRefGoogle ScholarPubMed
8.Mukherjee, S, Maxfield, FR.Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004;1685(1–3):28–37.CrossRefGoogle ScholarPubMed
9.Yu, W, Gong, JS, Ko, M, Garver, WS, Yanagisawa, K, Michikawa, M.Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function. J Biol Chem. 2005 Mar 25;280(12):11731–9.CrossRefGoogle ScholarPubMed
10.Boustany, RN, Kaye, E, Alroy, J.Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. Pediatr Neurol. 1990;6(3):177–83.CrossRefGoogle ScholarPubMed
11.Prasad, A, Kaye, EM, Alroy, J.Electron microscopic examination of skin biopsy is a cost-effective tool in the diagnosis of lysosomal storage diseases. J Child Neurol. 1996;11(4):301–8.CrossRefGoogle ScholarPubMed