Last Updated: 09/26/2026
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Found 41 publications
Hematopoietic Stem-Cell Gene Therapy for Cystinosis. Reply.
Journal: The New England journal of medicine
Published: May 27, 2026
Hematopoietic Stem-Cell Gene Therapy for Cystinosis.
Journal: The New England journal of medicine
Published: February 18, 2026
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Journal: Pediatric neurology
Published: November 26, 2024
Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.
Journal: Molecular therapy. Nucleic acids
Published: August 08, 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Journal: Journal of medical genetics
Published: June 02, 2023
Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys.
Journal: Kidney international reports
Published: March 10, 2022
Tumor metabolism and neurocognition in CNS lymphoma.
Journal: Neuro-oncology
Published: February 24, 2021
Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.
Journal: Journal of pediatric gastroenterology and nutrition
Published: January 05, 2021
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Journal: JIMD reports
Published: September 25, 2019
Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.
Journal: PloS one
Published: August 26, 2019
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
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Journal: European journal of medical genetics
Published: August 14, 2019
Last Updated: 09/26/2026