Last Updated: 09/26/2026
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Found 29 publications
Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.
Journal: Molecular genetics and metabolism
Published: April 13, 2026
The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies.
Journal: Prenatal diagnosis
Published: July 01, 2025
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Journal: Journal of neuromuscular diseases
Published: October 10, 2022
A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.
Journal: International journal of neonatal screening
Published: May 08, 2022
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Journal: Frontiers in genetics
Published: March 01, 2022
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Journal: Cardiology in the young
Published: August 23, 2021
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 15, 2021
Participant choices for return of genomic results in the eMERGE Network.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 02, 2020
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.
Journal: Anesthesia and analgesia
Published: May 15, 2019
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 24, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Journal: Human mutation
Published: October 09, 2018
Last Updated: 09/26/2026