| VONDRÁČEK, Petr, Markéta HERMANOVÁ, Hana OŠLEJŠKOVÁ, Jana ŠOUKALOVÁ a Renata GAILLYOVÁ. A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation: Potential candidates for enzyme replacement therapy (abstract). Neuromuscular Disorders. Londýn, Velká Británie: Elsevier, 2007, roč. 17, 9-10, s. 793. ISSN 0960-8966. |
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@article{748828,
author = {Vondráček, Petr and Hermanová, Markéta and Ošlejšková, Hana and Šoukalová, Jana and Gaillyová, Renata},
article_location = {Londýn, Velká Británie},
article_number = {9-10},
keywords = {Pompe Disease},
language = {eng},
issn = {0960-8966},
journal = {Neuromuscular Disorders},
title = {A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation: Potential candidates for enzyme replacement therapy (abstract).},
volume = {17},
year = {2007}
}
TY - JOUR
ID - 748828
AU - Vondráček, Petr - Hermanová, Markéta - Ošlejšková, Hana - Šoukalová, Jana - Gaillyová, Renata
PY - 2007
TI - A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation: Potential candidates for enzyme replacement therapy (abstract).
JF - Neuromuscular Disorders
VL - 17
IS - 9-10
SP - 793
EP - 793
PB - Elsevier
SN - 09608966
KW - Pompe Disease
N2 - A family with multiple members affected by late-onset Pompe disease due to the R224W (670>T) mutation is described and discussed.
ER -
VONDRÁČEK, Petr, Markéta HERMANOVÁ, Hana OŠLEJŠKOVÁ, Jana ŠOUKALOVÁ a Renata GAILLYOVÁ. A family with multiple members affected by late-onset Pompe disease due to the R224W (670$>$T) mutation: Potential candidates for enzyme replacement therapy (abstract). \textit{Neuromuscular Disorders}. Londýn, Velká Británie: Elsevier, 2007, roč.~17, 9-10, s.~793. ISSN~0960-8966.
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