Zobrazeno 1 - 10
of 1 433
pro vyhledávání: '"IOPD"'
Autor:
Kishnani, Priya S.1 (AUTHOR) priya.kishnani@duke.edu, Kronn, David2 (AUTHOR), Suwazono, Shugo3 (AUTHOR), Broomfield, Alexander4 (AUTHOR), Llerena, Juan5 (AUTHOR), Al-Hassnan, Zuhair Nasser6 (AUTHOR), Batista, Julie L.7 (AUTHOR), Wilson, Kathryn M.8 (AUTHOR), Periquet, Magali9 (AUTHOR), Daba, Nadia10 (AUTHOR), Hahn, Andreas11 (AUTHOR), Chien, Yin-Hsiu12 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 12/6/2023, Vol. 18 Issue 1, p1-13. 13p.
Autor:
Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pompe Registry to determ
Externí odkaz:
https://doaj.org/article/f51edb17c7c14d7581ff804925e1d0d8
Autor:
Rustamov, Jaloliddin1 (AUTHOR) 700043175@uaeu.ac.ae, Rustamov, Zahiriddin2,3 (AUTHOR), Mohamad, Mohd Saberi4,5 (AUTHOR), Zaki, Nazar2,3 (AUTHOR), Al Tenaiji, Amal6 (AUTHOR), Al Harbi, Mariam7 (AUTHOR), Al Jasmi, Fatma1,3,8 (AUTHOR) aljasmif@uaeu.ac.ae
Publikováno v:
Scientific Reports. 9/14/2024, Vol. 14 Issue 1, p1-14. 14p.
Akademický článek
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Autor:
Rovelli, Valentina1 (AUTHOR) valentina.rovelli@asst-santipaolocarlo.it, Zuvadelli, Juri1 (AUTHOR), Piotto, Marta1 (AUTHOR), Scopari, Andrea1 (AUTHOR), Dionigi, Alice Re1 (AUTHOR), Ercoli, Vittoria1 (AUTHOR), Paci, Sabrina1 (AUTHOR), Cefalo, Graziella1 (AUTHOR), Salvatici, Elisabetta1 (AUTHOR), Banderali, Giuseppe1 (AUTHOR)
Publikováno v:
Italian Journal of Pediatrics. 3/28/2022, Vol. 48 Issue 1, p1-6. 6p.
Autor:
Valentina Rovelli, Juri Zuvadelli, Marta Piotto, Andrea Scopari, Alice Re Dionigi, Vittoria Ercoli, Sabrina Paci, Graziella Cefalo, Elisabetta Salvatici, Giuseppe Banderali
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other
Externí odkaz:
https://doaj.org/article/708b2dcf88fb41cda20947b356c935fd
Autor:
Sally Esmail, Wayne R. Danter
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 7 (2019)
Infantile onset Pompe disease (IOPD) is a rare and lethal genetic disorder caused by the deletion of the acid alpha-glucosidase (GAA) gene. This gene encodes an essential lysosomal enzyme that converts glycogen to glucose. While enzyme replacement th
Externí odkaz:
https://doaj.org/article/de20a1cdbfb74c8797685ab9e7226223
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Stafford, Grace, Rodriguez-Rassi, Eleanor, Desai, Ankit K., Shrivastava, Garima, Case, Laura E., Jones, Harrison N., Spiridigliozzi, Gail A., Kishnani, Priya S.
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Kronn, David, Kishnani, Priya, Davison, James, Brassier, Anais, Broomfield, Alexander, Hahn, Sihoun, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Haack, Kristina An, Sparks, Susan, Tammireddy, Swathi, Zaher, Atef, Zhou, Tianyue, Chien, Yin-Hsiu
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)