Last Updated: 09/26/2026
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Found 128 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
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.
Journal: Molecular genetics and metabolism
Published: February 03, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.
Journal: Molecular genetics and metabolism
Published: January 19, 2026
Galactose tolerance in adults with classical galactosaemia. Considering the gaps.
Journal: Molecular genetics and metabolism reports
Published: December 23, 2025
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.
Journal: Molecular genetics and metabolism reports
Published: December 12, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.
Journal: Annals of the Child Neurology Society
Published: August 29, 2025
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.
Journal: Orphanet journal of rare diseases
Published: August 06, 2025
Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.
Journal: JIMD reports
Published: February 04, 2025
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Journal: Journal of inherited metabolic disease
Published: December 19, 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
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.
Journal: Molecular genetics and metabolism
Published: November 06, 2024
Health and well-being of maturing adults with classic galactosemia.
Journal: Journal of inherited metabolic disease
Published: July 04, 2024
Last Updated: 09/26/2026