Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 52 publications
Bone mineral density in participants with phenylalanine hydroxylase (PAH) deficiency: a report from the PHEFREE rare disorders consortium.
Journal: Molecular genetics and metabolism
Published: March 24, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: November 25, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 2025
Current Treatment Modalities for Urea Cycle Disorders.
Journal: Paediatric drugs
Published: December 16, 2024
Phenylketonuria in adults: we know plenty, but there is much more to learn.
Journal: The American journal of clinical nutrition
Published: November 25, 2024
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.
Journal: Molecular genetics and metabolism
Published: June 07, 2024
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Journal: Molecular genetics and metabolism
Published: June 21, 2023
Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 16, 2023
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Journal: International journal of neonatal screening
Published: February 06, 2022
Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.
Journal: The Journal of pediatrics
Published: August 30, 2021
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2021
Last Updated: 09/26/2026