Last Updated: 09/26/2026
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Found 21 publications
New treatments, novel conversations: A need to study the science of communication about treatment options for inborn errors of metabolism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 03, 2025
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.
Journal: Pediatric transplantation
Published: May 26, 2025
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Journal: Journal of inherited metabolic disease
Published: May 24, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Journal: NPJ genomic medicine
Published: September 18, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: January 24, 2024
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
Journal: American journal of medical genetics. Part A
Published: December 15, 2023
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Journal: HGG advances
Published: May 17, 2023
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: March 03, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 13, 2023
Current and new therapies for mucopolysaccharidoses.
Journal: Pediatrics and neonatology
Published: September 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Journal: American journal of medical genetics. Part A
Published: August 06, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Journal: American journal of medical genetics. Part A
Published: April 07, 2022
Last Updated: 09/26/2026