Last Updated: 09/26/2026
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Found 15 publications
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal: Journal of inherited metabolic disease
Published: April 29, 2026
Disordered eating in diet-treated inborn errors of metabolism: screening and behavioral insights.
Journal: Orphanet journal of rare diseases
Published: December 31, 2025
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2025
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.
Journal: Molecular genetics and metabolism
Published: January 03, 2025
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
Journal: Molecular genetics and metabolism
Published: August 29, 2024
Leukocytosis and Splenomegaly in a Neonate With NRAS Mutation.
Journal: Clinical pediatrics
Published: June 02, 2023
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Journal: Molecular genetics and metabolism
Published: August 08, 2022
Severe central sleep apnea in a child with biallelic variants in NALCN.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: July 09, 2022
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.
Journal: Molecular genetics and metabolism reports
Published: June 24, 2021
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Journal: Brain : a journal of neurology
Published: March 17, 2021
The future of newborn screening for lysosomal disorders.
Journal: Neuroscience letters
Published: February 26, 2021
50 Years Ago in TheJournalofPediatrics: Phenylketonuria over the Years: A Story of Treatable Intellectual Disability.
Journal: The Journal of pediatrics
Published: December 21, 2020
Last Updated: 09/26/2026