Zobrazeno 1 - 10
of 57
pro vyhledávání: '"IOPD"'
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 17-22 (2023)
Abstract Infantile‐onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hype
Externí odkaz:
https://doaj.org/article/5f98fb1620e64e7e8aafb6076119f8d2
Autor:
Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Claudia Cinnante
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report
Externí odkaz:
https://doaj.org/article/29bd8cd004034c99adb89be849f766b3
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
Akademický článek
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Akademický článek
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Autor:
Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263
https://hdl.handle.net/11577/3468263
Kniha
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Autor:
Sarah P. Young, Christine Vianey-Saban, Magali Pettazzoni, Pascal Laforêt, Brigitte Chabrol, Monique Piraud, Marie De Antonio, Roseline Froissart
Publikováno v:
Molec. Genet. Metab. Rep.
Molec. Genet. Metab. Rep., 2020, 23, pp.100583. ⟨10.1016/j.ymgmr.2020.100583⟩
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molec. Genet. Metab. Rep., 2020, 23, pp.100583. ⟨10.1016/j.ymgmr.2020.100583⟩
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698d97b754414656fb5907757deff3c4
https://hal.archives-ouvertes.fr/hal-02902519
https://hal.archives-ouvertes.fr/hal-02902519
Autor:
Yang Zhao, Raymond Y. Wang, Nancy D. Leslie, Priya S. Kishnani, David Kronn, Jennifer L. Goldstein, John W. Day, James B. Gibson, Kristina An Haack, Susan Sparks, David W. Stockton, Pranoot Tanpaiboon, Loren D.M. Pena, Si Houn Hahn, Richard Hillman, Michael J. Gambello
Publikováno v:
Genetics in Medicine
Purpose To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. Methods Patients aged ≥1 year with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e5f6bddac6c1bf107ecaba20545014
https://doi.org/10.1038/s41436-019-0527-9
https://doi.org/10.1038/s41436-019-0527-9
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 72, p 72 (2020)
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 72, p 72 (2020)
Volume 6
Issue 3
Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8136379737100942a462fb88e987c693
http://europepmc.org/articles/PMC7569971
http://europepmc.org/articles/PMC7569971