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Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review
Author / Creator:Revel-Vilk, Shoshana ; Fuller, Maria ; Zimran, Ari
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-10, Vol.21 (19), p.7159
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Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
Author / Creator:Rolfs, Arndt ; Giese, Anne-Katrin ; Grittner, Ulrike ; Mascher, Daniel ; Elstein, Deborah ; Zimran, Ari ; Böttcher, Tobias ; Lukas, Jan ; Hübner, Rayk ; Gölnitz, Uta ; Röhle, Anja ; Dudesek, Ales ; Meyer, Wolfgang ; Wittstock, Matthias ; Mascher, Hermann
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e79732
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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease
Author / Creator:Hurvitz, Noa ; Dinur, Tama ; Becker-Cohen, Michal ; Cozma, Claudia ; Hovakimyan, Marina ; Oppermann, Sebastian ; Demuth, Laura ; Rolfs, Arndt ; Abramov, Aya ; Zimran, Ari ; Revel-Vilk, Shoshana
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-06, Vol.20 (12), p.3033
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IL-13Rα2-bearing, type II NKT cells reactive to sulfatide self-antigen populate the mucosa of ulcerative colitis
Author / Creator:Fuss, Ivan J ; Joshi, Bharat ; Yang, Zhiqiong ; Degheidy, Heba ; Fichtner-Feigl, Stefan ; de Souza, Heitor ; Rieder, Florian ; Scaldaferri, Franco ; Schirbel, Anja ; Scarpa, Melania ; West, Gail ; Yi, Chuli ; Xu, Lili ; Leland, Pamela ; Yao, Michael ; Mannon, Peter ; Puri, Raj K ; Fiocchi, Claudio ; Strober, Warren
Publisher:England: BMJ Publishing Group Ltd and British Society of Gastroenterology
Journal title:Gut, 2014-11, Vol.63 (11), p.1728-1736
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Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
Author / Creator:Sardi, S. Pablo ; Clarke, Jennifer ; Viel, Catherine ; Chan, Monyrath ; Tamsett, Thomas J. ; Treleaven, Christopher M. ; Bu, Jie ; Sweet, Lindsay ; Passini, Marco A. ; Dodge, James C. ; Yu, W. Haung ; Sidman, Richard L. ; Cheng, Seng H. ; Shihabuddin, Lamya S.
Publisher:Washington, DC: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (9), p.3537-3542
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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Author / Creator:Dinur, Tama ; Bauer, Peter ; Beetz, Christian ; Kramp, Guido ; Cozma, Claudia ; Iurașcu, Marius-Ionuț ; Becker-Cohen, Michal ; Istaiti, Majdolen ; Rolfs, Arndt ; Zimran, Ari ; Revel-Vilk, Shoshana
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-01, Vol.23 (3), p.1627
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Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers
Author / Creator:Szymańska-Rożek, Paulina ; Lipiński, Patryk ; Kleinotiene, Grazina ; Dubiela, Paweł ; Tylki-Szymańska, Anna
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-11, Vol.25 (22), p.12021
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Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
Author / Creator:Welford, Richard W. D. ; Garzotti, Marco ; Marques Lourenço, Charles ; Mengel, Eugen ; Marquardt, Thorsten ; Reunert, Janine ; Amraoui, Yasmina ; Kolb, Stefan A. ; Morand, Olivier ; Groenen, Peter
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-12, Vol.9 (12), p.e114669
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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
Author / Creator:Cozma, Claudia ; Cullufi, Paskal ; Kramp, Guido ; Hovakimyan, Marina ; Velmishi, Virtut ; Gjikopulli, Agim ; Tomori, Sonila ; Fischer, Steffen ; Oppermann, Sebastian ; Grittner, Ulrike ; Bauer, Peter ; Beetz, Christian ; Rolfs, Arndt
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-06, Vol.21 (13), p.4577
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ArticlesPeer ReviewedFull Text
A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement i...
Author / Creator:Vernet Machado Bressan Wilke, Matheus ; Iop, Gabrielle Dineck ; Faqueti, Larissa ; Lemos da Silva, Layzon Antonio ; Kubaski, Francyne ; Poswar, Fabiano O. ; Michelin-Tirelli, Kristiane ; Randon, Dévora ; Borelli, Wyllians Vendramini ; Giugliani, Roberto ; Schwartz, Ida Vanessa D.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-03, Vol.25 (5), p.2870
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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey
Author / Creator:Zimran, Ari ; Revel-Vilk, Shoshana ; Dinur, Tama ; Istaiti, Majdolen ; Botha, Jaco ; Lukina, Elena ; Giraldo, Pilar ; Deegan, Patrick ; Dahl, Stephan vom
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1), p.43-10, Article 43
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ArticlesPeer ReviewedFull Text
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor
Author / Creator:Babcock, Michael C. ; Mikulka, Christina R. ; Wang, Bing ; Chandriani, Sanjay ; Chandra, Sundeep ; Xu, Yue ; Webster, Katherine ; Feng, Ying ; Nelvagal, Hemanth R. ; Giaramita, Alex ; Yip, Bryan K. ; Lo, Melanie ; Jiang, Xuntian ; Chao, Qi ; Woloszynek, Josh C. ; Shen, Yuqiao ; Bhagwat, Shripad ; Sands, Mark S. ; Crawford, Brett E.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-07, Vol.11 (1), p.14486-17, Article 14486
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ArticlesPeer ReviewedFull Text
Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1
Author / Creator:Srikanth, Manasa P. ; Jones, Jace W. ; Kane, Maureen ; Awad, Ola ; Park, Tea Soon ; Zambidis, Elias T. ; Feldman, Ricardo A.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:Stem cells translational medicine, 2021-07, Vol.10 (7), p.1081-1094
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Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach
Author / Creator:Menkovic, Iskren ; Boutin, Michel ; Alayoubi, Abdulfatah ; Mercier, François E. ; Rivard, Georges-Étienne ; Auray-Blais, Christiane
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-10, Vol.21 (21), p.7869
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Successful newborn screening for Gaucher disease using fluorometric assay in China
Author / Creator:Kang, Lulu ; Zhan, Xia ; Gu, Xuefan ; Zhang, Huiwen
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-08, Vol.62 (8), p.763-768
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Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy
Author / Creator:Dubiela, Pawel ; Szymanska-Rozek, Paulina ; Hasinski, Piotr ; Lipinski, Patryk ; Kleinotiene, Grazina ; Giersz, Dorota ; Tylki-Szymanska, Anna
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2024-07, Vol.14 (7), p.842
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Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology
Author / Creator:Sun, Ying ; Florer, Jane ; Mayhew, Christopher N. ; Jia, Zhanfeng ; Zhao, Zhiying ; Xu, Kui ; Ran, Huimin ; Liou, Benjamin ; Zhang, Wujuan ; Setchell, Kenneth D. R. ; Gu, Jianguo ; Grabowski, Gregory A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0118771
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Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease
Author / Creator:Cabrera-Salazar, Mario A. ; DeRiso, Matthew ; Bercury, Scott D. ; Li, Lingyun ; Lydon, John T. ; Weber, William ; Pande, Nilesh ; Cromwell, Mandy A. ; Copeland, Diane ; Leonard, John ; Cheng, Seng H. ; Scheule, Ronald K.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-08, Vol.7 (8), p.e43310
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ArticlesPeer ReviewedFull Text
Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease
Author / Creator:Sun, Ying ; Zhang, Wujuan ; Xu, You-Hai ; Quinn, Brian ; Dasgupta, Nupur ; Liou, Benjamin ; Setchell, Kenneth D. R. ; Grabowski, Gregory A.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-03, Vol.8 (3), p.e57560
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Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease
Author / Creator:Dai, Mei ; Liou, Benjamin ; Swope, Brittany ; Wang, Xiaohong ; Zhang, Wujuan ; Inskeep, Venette ; Grabowski, Gregory A. ; Sun, Ying ; Pan, Dao
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-09, Vol.11 (9), p.e0162367-e0162367
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Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

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Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

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IL-13Rα2-bearing, type II NKT cells reactive to sulfatide self-antigen populate the mucosa of ulcerative colitis

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Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

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Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

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Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers

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Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

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A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement i...

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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey

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Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor

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Elevated glucosylsphingosine in Gaucher disease induced pluripotent stem cell neurons deregulates lysosomal compartment through mammalian target of rapamycin complex 1

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Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

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Successful newborn screening for Gaucher disease using fluorometric assay in China

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Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy

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Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology

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Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

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Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

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Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease

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