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1.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Am J Hum Genet
; 110(9): 1600-1605, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37607539
2.
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.
Mol Genet Metab
; 140(3): 107698, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37820575
3.
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.
Mol Genet Metab
; 140(3): 107685, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37604083
4.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Mol Genet Metab
; 140(1-2): 107632, 2023.
Article
in English
| MEDLINE | ID: mdl-37407323
5.
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.
Clin Chem Lab Med
; 60(11): 1855-1858, 2022 10 26.
Article
in English
| MEDLINE | ID: mdl-36000484
6.
The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.
BMC Nephrol
; 23(1): 169, 2022 05 04.
Article
in English
| MEDLINE | ID: mdl-35505287
7.
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
Angew Chem Int Ed Engl
; 61(38): e202207974, 2022 09 19.
Article
in English
| MEDLINE | ID: mdl-35864061
8.
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trial.
Clin Chem Lab Med
; 59(12): 1921-1929, 2021 11 25.
Article
in English
| MEDLINE | ID: mdl-34355544
9.
A multi-centre, open label, randomised, parallel-group, superiority Trial to compare the efficacy of URsodeoxycholic acid with RIFampicin in the management of women with severe early onset Intrahepatic Cholestasis of pregnancy: the TURRIFIC randomised trial.
BMC Pregnancy Childbirth
; 21(1): 51, 2021 Jan 12.
Article
in English
| MEDLINE | ID: mdl-33435904
10.
Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 129(2): 111-116, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31494022
11.
Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients.
Rheumatology (Oxford)
; 59(8): 2085-2089, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-31808525
12.
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
J Inherit Metab Dis
; 43(3): 558-563, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31707742
13.
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
BMC Nephrol
; 21(1): 58, 2020 02 22.
Article
in English
| MEDLINE | ID: mdl-32087678
14.
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.
Int J Mol Sci
; 21(19)2020 Sep 28.
Article
in English
| MEDLINE | ID: mdl-32998334
15.
Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.
Int J Mol Sci
; 21(4)2020 Feb 11.
Article
in English
| MEDLINE | ID: mdl-32054038
16.
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses.
Genet Med
; 21(3): 753-757, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30061628
17.
Evaluation of biomarkers for Sanfilippo syndrome.
Mol Genet Metab
; 128(1-2): 68-74, 2019.
Article
in English
| MEDLINE | ID: mdl-31104888
18.
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.
J Pathol
; 244(1): 120-128, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28981147
19.
The brain lipidome in neurodegenerative lysosomal storage disorders.
Biochem Biophys Res Commun
; 504(3): 623-628, 2018 10 07.
Article
in English
| MEDLINE | ID: mdl-29524416
20.
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse.
Mol Genet Metab
; 123(2): 112-117, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29273385