Last Updated: 09/26/2026
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Found 13 publications
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.
Journal: Molecular genetics and metabolism
Published: February 26, 2026
Oral octanoylcarnitine alleviates exercise intolerance in mouse models of long-chain fatty acid oxidation disorders.
Journal: bioRxiv : the preprint server for biology
Published: July 16, 2025
Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).
Journal: Molecular genetics and metabolism reports
Published: December 12, 2023
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.
Journal: Molecular genetics and metabolism reports
Published: May 04, 2023
Rescue of glutaric aciduria type I in mice by liver-directed therapies.
Journal: Science translational medicine
Published: April 19, 2023
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome.
Journal: Molecular genetics and metabolism reports
Published: August 05, 2022
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.
Journal: Molecular genetics and metabolism reports
Published: January 08, 2021
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 20, 2017
Diagnosing mucopolysaccharidosis IVA.
Journal: Journal of inherited metabolic disease
Published: August 23, 2012
Last Updated: 09/26/2026