Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials

Authors: Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub

Source: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101109- (2024)

Subject Terms: Late-onset Pompe disease, Enzyme replacement therapy, Avalglucosidase alfa, Alglucosidase alfa, Respiratory, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000624; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/8c1269ee7f074a86a443bd3cdd49e43a

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

Authors: 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

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

Subject Terms: Alglucosidase alfa, Dose, Enzyme replacement therapy, Infantile onset Pompe disease, Pompe disease, Pompe registry, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/f51edb17c7c14d7581ff804925e1d0d8

3024 COMET post hoc analysis: efficacy of long-term avalglucosidase alfa in subgroups of patients with late-onset Pompe disease

Authors: Mark Roberts, Jordi Diaz-Manera, Antonio Toscano, Sabrina Sacconi, Mazen M Dimachkie, Nicole Armstrong, Robert Henderson, Benedikt Schoser, Priya S Kishnani, Olivier Huynh-Ba, Nathan Thibault, Young Chul Choi, Shugo Suwazono, Paulo Victor Sgobbi de Souza, Magali Periquet

Source: BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/2632-6140

Access URL: https://doaj.org/article/2e003ce4137a4384adc92d7fe85d02dc

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Authors: Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Subject Terms: Next-generation sequencing, Limb-girdle muscle weakness, Pompe disease, Latin America, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7238d780e8914ec39d31737fd18f471e

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.

Authors: Lesage, Suzanne, Magali, Periquet, Lohmann, Ebba, Lacomblez, Lucette, Teive, Helio, Janin, Sabine, Cousin, Pierre-Yves, Dürr, Alexandra, Brice, Alexis

Source: Human Mutation; Jan2007, Vol. 28 Issue 1, p27-32, 6p

How much phenotypic variation can be attributed to parkin genotype?

Authors: Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, Nick W. Wood, Giuseppe De Michele, Anne-Marie Bonnet, Valérie Fraix, Emmanuel Broussolle, Martin W. I. M. Horstink, Marie Vidailhet, Patrice Verpillat, Thomas Gasser, David Nicholl, Hélio Teive, Salmo Raskin, Olivier Rascol, Alain Destée, Merle Ruberg, Francesca Gasparini, Giuseppe Meco

Source: Annals of Neurology; Aug2003, Vol. 54 Issue 2, p176-185, 10p

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