Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9748" target="_blank" >RIV/00216208:11110/11:9748 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/11:9748

Result on the web

<a href="http://dx.doi.org/10.1016/j.ymgme.2011.03.002" target="_blank" >http://dx.doi.org/10.1016/j.ymgme.2011.03.002</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Original language description

We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies and placentas were collected at birth. We were able to demonstrate early storage of GAGs in both diseases by GAG measurement and microscopy analysis. Our results suggest that some alterations related to MPS storage, although not pronounced, may be observed in placental tissue of patientsaffected by MPS II and MPS VI.

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

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

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

Name of the periodical

Molecular Genetics and Metabolism

ISSN

1096-7192

e-ISSN

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Volume of the periodical

103

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

2

Pages from-to

197-198

UT code for WoS article

000291456900017

EID of the result in the Scopus database

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