High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological...
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
About this item
Full title
Author / Creator
Mandia, Daniele , Plaze, Marion , Le Ber, Isabelle , Ewenczyk, Claire , Morin, Alexandre , Carle, Guilhem , Consoli, Angèle , Degardin, Adrian , Amad, Ali , Moreau, Caroline , Anheim, Mathieu , Tranchant, Christine , Mélé, Nicolas , Roue-Jagot, Carole , Lagarde, Julien , Sarazin, Marie , Hamelin, Lorraine , Ellul, Pierre , Pagan, Cécile , Pettazzoni, Magali , Bekri, Soumeya , Belliard, Serge , Goizet, Cyril , Wallon, David , Lamari, Foudil and Nadjar, Yann
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three plasma screening biomarkers (PSBs) were developed [cholestane3β,5α,6βtriol (C-triol), 7-ketocholesterol (7-KC), and lysosphingomyelin-509 (LSM-...
Alternative Titles
Full title
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Authors, Artists and Contributors
Author / Creator
Plaze, Marion
Le Ber, Isabelle
Ewenczyk, Claire
Morin, Alexandre
Carle, Guilhem
Consoli, Angèle
Degardin, Adrian
Amad, Ali
Moreau, Caroline
Anheim, Mathieu
Tranchant, Christine
Mélé, Nicolas
Roue-Jagot, Carole
Lagarde, Julien
Sarazin, Marie
Hamelin, Lorraine
Ellul, Pierre
Pagan, Cécile
Pettazzoni, Magali
Bekri, Soumeya
Belliard, Serge
Goizet, Cyril
Wallon, David
Lamari, Foudil
Nadjar, Yann
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03698376v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03698376v1
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-020-10020-4
