LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10323311" target="_blank" >RIV/00216208:11130/15:10323311 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/15:10297513 RIV/00216208:11110/15:10297513

Result on the web

<a href="http://dx.doi.org/10.1016/j.jjcc.2014.12.014" target="_blank" >http://dx.doi.org/10.1016/j.jjcc.2014.12.014</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jjcc.2014.12.014" target="_blank" >10.1016/j.jjcc.2014.12.014</a>

Result language

angličtina

Original language name

LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers

Original language description

Having previously published on the usage of white blood cells (WBC) in diagnostics of X-chromosome linked Danon disease (DD, LAMP2 deficiency), we would like to respond to claims made by Hashida and colleagues in their report ""Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes"". Our aim is to rectify the statements on novelty of the LAMP2 flow cytometric (FC) assay and its utility in early diagnosis and/or screening for DD patients. We would further like to comment on the genetic setup in the presented DD family and clarify the interpretation of WBC LAMP2 expression patterns in female patients as outlined by the authors.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

—

Project

<a href="/en/project/NT14015" target="_blank" >NT14015: Progress in methods of laboratory diagnostics of inherited lysosomal neurodegenerative disorders</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Cardiology

ISSN

0914-5087

e-ISSN

—

Volume of the periodical

66

Issue of the periodical within the volume

1-2

Country of publishing house

IE - IRELAND

Number of pages

2

Pages from-to

88-89

UT code for WoS article

000359684600015

EID of the result in the Scopus database

2-s2.0-84930926631