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Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00363-2
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- Article
Autologous, lentivirus‐modified, T‐rapa cell "micropharmacies" for lysosomal storage disorders.
- Published in:
- EMBO Molecular Medicine, 2022, v. 14, n. 4, p. 1, doi. 10.15252/emmm.202114297
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- Article
Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.
- Published in:
- Journal of Pathology, 2018, v. 244, n. 1, p. 120, doi. 10.1002/path.4992
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- Article
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7159, doi. 10.3390/ijms21197159
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- Article
Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1195, doi. 10.3390/ijms21041195
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- Article
Aberrant Lipid Metabolism: An Emerging Diagnostic and Therapeutic Target in Ovarian Cancer.
- Published in:
- International Journal of Molecular Sciences, 2013, v. 14, n. 4, p. 7742, doi. 10.3390/ijms14047742
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- Article
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.
- Published in:
- 2021
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- Publication type:
- journal article
The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.
- Published in:
- 2022
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- Publication type:
- journal article
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 7, p. 446, doi. 10.3390/metabo11070446
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- Article
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) in Fabry Transgenic Mice and in the Plasma of Fabry Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057631
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- Publication type:
- Article
Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice.
- Published in:
- PLoS ONE, 2008, v. 3, n. 5, p. 1, doi. 10.1371/journal.pone.0002296
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- Publication type:
- Article
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 10, doi. 10.1002/jmd2.12214
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- Publication type:
- Article
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 68, doi. 10.1002/jmd2.12132
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- Publication type:
- Article
Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep.
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- Journal of Veterinary Diagnostic Investigation, 2019, v. 31, n. 1, p. 118, doi. 10.1177/1040638718806685
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- Publication type:
- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
- Published in:
- Angewandte Chemie, 2022, v. 134, n. 38, p. 1, doi. 10.1002/ange.202207974
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- Publication type:
- Article
Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients.
- Published in:
- Rheumatology, 2020, v. 59, n. 8, p. 2085, doi. 10.1093/rheumatology/kez545
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- Article
Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.
- Published in:
- Clinical Biochemist Reviews, 2020, v. 41, n. 2, p. 53, doi. 10.33176/AACB-19-00037
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- Publication type:
- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
- Published in:
- Angewandte Chemie International Edition, 2022, v. 61, n. 38, p. 1, doi. 10.1002/anie.202207974
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- Publication type:
- Article
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet.
- Published in:
- Journal of Neurochemistry, 2017, v. 141, n. 2, p. 287, doi. 10.1111/jnc.13976
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- Publication type:
- Article
Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspring.
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- Nutrition & Metabolism, 2018, v. 15, n. 1, p. N.PAG, doi. 10.1186/s12986-018-0279-6
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- Article
Sphingolipids: the nexus between Gaucher disease and insulin resistance.
- Published in:
- Lipids in Health & Disease, 2010, v. 9, p. 113, doi. 10.1186/1476-511X-9-113
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- Publication type:
- Article
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 558, doi. 10.1002/jimd.12192
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- Publication type:
- Article
The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases.
- Published in:
- Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcab303
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- Publication type:
- Article
Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide.
- Published in:
- Journal of the American Heart Association, 2014, v. 3, n. 1, p. 1, doi. 10.1161/JAHA.113.000394
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- Publication type:
- Article
Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 Adipocytes.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162047
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- Publication type:
- Article
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 9, doi. 10.3390/ijns8010009
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- Publication type:
- Article
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020025
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- Publication type:
- Article
Peroxisome proliferator-activated receptor gamma-coactivator-1 alpha coordinates sphingolipid metabolism, lipid raft composition and myelin protein synthesis.
- Published in:
- European Journal of Neuroscience, 2013, v. 38, n. 5, p. 2672, doi. 10.1111/ejn.12281
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- Publication type:
- Article
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
- Published in:
- European Journal of Neuroscience, 2009, v. 29, n. 6, p. 1197, doi. 10.1111/j.1460-9568.2009.06666.x
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- Publication type:
- Article
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
- Published in:
- 2020
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- Publication type:
- journal article
Minimum substrate requirements of endoglycosidase activities toward dermatan sulfate by electrospray ionization-tandem mass spectrometry.
- Published in:
- Glycobiology, 2008, v. 18, n. 12, p. 1119, doi. 10.1093/glycob/cwn097
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- Publication type:
- Article
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates.
- Published in:
- Glycobiology, 2006, v. 16, n. 4, p. 318, doi. 10.1093/glycob/cwj072
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- Publication type:
- Article
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.
- Published in:
- Glycobiology, 2004, v. 14, n. 5, p. 443, doi. 10.1093/glycob/cwh049
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- Publication type:
- Article
SERUM SPHINGOLIPIDS AS CANDIDATE BIOMARKERS IN RHEUMATOID ARTHRITIS.
- Published in:
- Acta Reumatológica Portuguesa, 2019, p. 63
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- Publication type:
- Article
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04932-w
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- Publication type:
- Article
Laronidase Treatment of Mucopolysaccharidosis I.
- Published in:
- BioDrugs, 2005, v. 19, n. 1, p. 1, doi. 10.2165/00063030-200519010-00001
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- Publication type:
- Article
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2022, v. 60, n. 11, p. 1855, doi. 10.1515/cclm-2022-0473
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- Publication type:
- Article
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trial.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 12, p. 1921, doi. 10.1515/cclm-2021-0496
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- Publication type:
- Article