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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

<a href="/cs/project/NT14015" target="_blank" >NT14015: Rozvoj metod laboratorní diagnostiky dědičných lysosomálních neurodegenerativních poruch</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Journal of Cardiology

ISSN

0914-5087

e-ISSN

—

Svazek periodika

66

Číslo periodika v rámci svazku

1-2

Stát vydavatele periodika

IE - Irsko

Počet stran výsledku

2

Strana od-do

88-89

Kód UT WoS článku

000359684600015

EID výsledku v databázi Scopus

2-s2.0-84930926631