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Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Genetics in medicine, 2019-03, Vol.21 (3), p.753-757

2019

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Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease

Human gene therapy, 2021-04, Vol.32 (7-8), p.420

2021

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Reduced cerebral vascularization in experimental neuronopathic Gaucher disease

The Journal of pathology, 2018-01, Vol.244 (1), p.120-128

2018

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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

Metabolites, 2021-07, Vol.11 (7), p.446

2021

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Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids

Journal of lipid research, 2018-08, Vol.59 (8), p.1510-1518

2018

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Determination of ester position in isomeric (O-acyl)-hydroxy fatty acids by ion trap mass spectrometry

Rapid communications in mass spectrometry, 2016-11, Vol.30 (21), p.2351-2359

2016

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Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation

NPJ Parkinson's Disease, 2022-08, Vol.8 (1), p.99-99, Article 99

2022

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The long and the short of Huntington’s disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases

Brain communications, 2022, Vol.4 (1), p.fcab303-fcab303

2022

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Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

Communications biology, 2023-05, Vol.6 (1), p.560-560, Article 560

2023

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Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100811-100811, Article 100811

2021

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Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.111-116

2020

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Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

JIMD reports, 2020-09, Vol.55 (1), p.68-74

2020

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Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107685-107685, Article 107685

2023

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Expanding the clinical utility of glucosylsphingosine for Gaucher disease

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.558-563

2020

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Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.112-117

2018

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Evaluation of biomarkers for Sanfilippo syndrome

Molecular genetics and metabolism, 2019-09, Vol.128 (1-2), p.68-74

2019

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GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

American journal of human genetics, 2023-09, Vol.110 (9), p.1600-1605

2023

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Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet

Journal of neurochemistry, 2017-04, Vol.141 (2), p.287-295

2017

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Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy

Analytica chimica acta, 2017-02, Vol.955, p.79-85

2017

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Detection and quantification of tear phospholipids and cholesterol in contact lens deposits: the effect of contact lens material and lens care solution

Investigative ophthalmology & visual science, 2010-06, Vol.51 (6), p.2843-2851

2010

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Identification of phospholipids in human meibum by nano-electrospray ionisation tandem mass spectrometry

Experimental eye research, 2011-03, Vol.92 (3), p.238-240

2011

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Ceramide accumulation in L6 skeletal muscle cells due to increased activity of ceramide synthase isoforms has opposing effects on insulin action to those caused by palmitate treatment

Diabetologia, 2013-12, Vol.56 (12), p.2697-2701

2013

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Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse

Experimental neurology, 2016-03, Vol.277, p.68-75

2016

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A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107830, Article 107830

2024

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Suppression of mutant Kirsten-RAS (KRAS G12D )-driven pancreatic carcinogenesis by dual-specificity MAP kinase phosphatases 5 and 6

Oncogene, 2022-05, Vol.41 (20), p.2811-2823

2022

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Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease

Reduced cerebral vascularization in experimental neuronopathic Gaucher disease

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids

Determination of ester position in isomeric (O-acyl)-hydroxy fatty acids by ion trap mass spectrometry

Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation

The long and the short of Huntington’s disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells

Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

Expanding the clinical utility of glucosylsphingosine for Gaucher disease

Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse

Evaluation of biomarkers for Sanfilippo syndrome

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy

Detection and quantification of tear phospholipids and cholesterol in contact lens deposits: the effect of contact lens material and lens care solution

Identification of phospholipids in human meibum by nano-electrospray ionisation tandem mass spectrometry

Ceramide accumulation in L6 skeletal muscle cells due to increased activity of ceramide synthase isoforms has opposing effects on insulin action to those caused by palmitate treatment

Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse

A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses

Suppression of mutant Kirsten-RAS (KRAS G12D )-driven pancreatic carcinogenesis by dual-specificity MAP kinase phosphatases 5 and 6

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