Last Updated: 09/26/2026
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Found 21 publications
The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool.
Journal: American journal of medical genetics. Part A
Published: April 22, 2025
Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.
Journal: Pediatric neurology
Published: March 31, 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 07, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Journal: Pediatric neurology
Published: November 26, 2024
Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.
Journal: Molecular genetics and metabolism
Published: July 09, 2024
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Journal: Molecular genetics and metabolism
Published: November 04, 2023
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: August 11, 2023
Behavioral, social and school functioning in children with Pompe disease.
Journal: Molecular genetics and metabolism reports
Published: July 25, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Journal: American journal on intellectual and developmental disabilities
Published: August 26, 2019
Novel approaches to quantify CNS involvement in children with Pompe disease.
Journal: Neurology
Published: August 01, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Journal: American journal of human genetics
Published: September 08, 2018
IRF2BPL Is Associated with Neurological Phenotypes.
Journal: American journal of human genetics
Published: May 15, 2018
Last Updated: 09/26/2026