Last Updated: 09/26/2026
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Found 13 publications
Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Journal: Journal of neurology
Published: July 31, 2025
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Journal: Journal of neurology
Published: February 22, 2024
Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.
Journal: Mechanisms of ageing and development
Published: January 04, 2018
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
Journal: JIMD reports
Published: April 19, 2016
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
Journal: The New England journal of medicine
Published: September 10, 2015
Increased oxidative phosphorylation in response to acute and chronic DNA damage.
Journal: NPJ aging and mechanisms of disease
Published: August 27, 2015
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: September 25, 2014
Copy number variation plays an important role in clinical epilepsy.
Journal: Annals of neurology
Published: February 17, 2014
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
Journal: JPEN. Journal of parenteral and enteral nutrition
Published: December 19, 2013
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
Journal: JIMD reports
Published: June 03, 2013
Last Updated: 09/26/2026