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Plos One|September 16, 2016
Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 AdipocytesSergio Rodriguez-Cuenca, Lauren Whyte, Rachel Hagen, et al.
Molecular Genetics and Metabolism|October 11, 2023
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycansZackary M Herbst, Xinying Hong, Martin Sadilek, et al.
Internal Medicine Journal|November 11, 2020
Scoring system to facilitate diagnosis of Gaucher diseaseAtul Mehta, Oliver Rivero-Arias, Magy Abdelwahab, et al.
Blood Cells, Molecules & Diseases|November 16, 2010
Potential biomarkers of osteonecrosis in Gaucher diseaseElena V Pavlova, Patrick B Deegan, Jane Tindall, et al.
Heart (British Cardiac Society)|February 7, 2015
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry DiseaseVimal Patel, Constantinos O'Mahony, Derralynn Hughes, et al.
Stem Cell Research|June 6, 2022
Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A)Quan Yu, Atul Mehta, Jizhong Zou, et al.
Glycobiology|December 27, 2005
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfatesMaria Fuller, Ally Chau, Rachael C Nowak, et al.
Molecular Genetics and Metabolism|December 4, 2014
Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblastsMaria Fuller, Natalie Mellett, Leanne K Hein, et al.
Analytical Biochemistry|April 29, 2014
Liquid chromatography/electrospray ionisation-tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasmaMaria Fuller, Stephen Duplock, Leanne K Hein, et al.
Experimental Neurology|December 30, 2015
Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouseJennifer T Saville, Rebecca J Lehmann, Ainslie L K Derrick-Roberts, et al.
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