Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations-Reference-Cited by-同舟云学术

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

Published:2016-04 Issue: Volume:455 Page:39-45
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Romanello Milena,Zampieri Stefania,Bortolotti Nadia,Deroma Laura,Sechi Annalisa,Fiumara Agata,Parini Rossella,Borroni Barbara,Brancati Francesco,Bruni Amalia,Russo Cinzia V.,Bordugo Andrea,Bembi Bruno,Dardis Andrea

Funder

Actelion Pharmaceuticals

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference19 articles.

1. Niemann–Pick Disease Type C: A Lipid Trafficking Disorder;Patterson,2001

2. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?;Dvorakova;J. Inherit. Metab. Dis.,2006

3. A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient;Greenberg;Mol. Genet. Metab. Rep.,2015

4. Niemann–Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families;Millat;Mol. Genet. Metab.,2005

5. Niemann-Pick disease type C;Vanier;Orphanet J. Rare Dis.,2010

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