Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis-Reference-Cited by-同舟云学术

Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

Published:2016-08 Issue: Volume:459 Page:57-62
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Ribas G.S.,Souza H.M.,de Mari J.,Deon M.,Mescka C.,Saraiva-Pereira M.L.,Kessler R.,Trapp F.,Michelin K.,Burin M.,Vargas C.R.,Giugliani R.

Funder

CAPES

CNPq

FAPERGS

FIPE/HCPA-Brazil

Actelion

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference36 articles.

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3. Oxidative stress: a pathogenic mechanism for Niemann–Pick type C disease;Vázquez;Oxidative Med. Cell. Longev.,2012

4. Niemann–Pick type C: a disorder of cellular cholesterol trafficking;Ory;Biochim. Biophys. Acta,2000

5. Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update;Patterson;Mol. Genet. Metab.,2012

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