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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