Publications by authors named "P Alex Mabe"

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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Melissa P Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C Gallagher, Paulina Mabe

Orphanet J Rare Dis· December 2023

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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Paulina Mabe

Genet Med· April 2023

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A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Paulina Mabe

Genet Med· July 2022

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Effect of Test Interface on Respiratory Muscle Activity and Pulmonary Function During Respiratory Testing in Healthy Adults: A Pilot Study.
Elaheh Sajjadi, Patrick C Mabe, Yasin B Seven, Barbara K Smith

Cardiopulm Phys Ther J· April 2022

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Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].
David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al-Sayed, Paulina Mabe

Mol Genet Metab· December 2018

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