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Molecular Genetics and Metabolism|August 21, 2023
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening resultsJennifer T Saville, Zackary M Herbst, Michael H Gelb, et al.American Journal of Clinical Pathology|September 15, 2004
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophagesLeonie A Boven, Marjan van Meurs, Rolf G Boot, et al.Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.Journal of the American College of Cardiology|May 24, 2008
The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathyStavros Kounas, Camelia Demetrescu, Antonios A Pantazis, et al.Human Gene Therapy|December 19, 2020
Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of DiseaseJennifer T Saville, Ainslie L K Derrick-Roberts, Chantelle McIntyre, et al.Analytica Chimica Acta|January 16, 2017
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophyJennifer T Saville, Nicholas J C Smith, Janice M Fletcher, et al.International Journal of Neonatal Screening|October 30, 2020
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-IZackary M Herbst, Leslie Urdaneta, Terri Klein, et al.Molecular Genetics and Metabolism Reports|December 18, 2020
Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophyMaria Fuller, Rebecca Perry, Madiha Saiedi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Is it Fabry disease?Raphael Schiffmann, Maria Fuller, Lorne A Clarke, et al.Pageof 24