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87 results for Glycogen+storage+disease+type+Ib

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Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model
Author / Creator:Parezanovic, Marina ; Stevanovic, Nina ; Andjelkovic, Marina ; Ugrin, Milena ; Pavlovic, Sonja ; Stojiljkovic, Maja ; Skakic, Anita
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-01, Vol.13 (1), p.e70054-n/a
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Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre
Author / Creator:Halligan, Rebecca K. ; Dalton, R. Neil ; Turner, Charles ; Lewis, Katherine A. ; Mundy, Helen R.
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.195-195, Article 195
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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
Author / Creator:Grünert, Sarah C. ; Elling, Roland ; Maag, Bärbel ; Wortmann, Saskia B. ; Derks, Terry G. J. ; Hannibal, Luciana ; Schumann, Anke ; Rosenbaum-Fabian, Stefanie ; Spiekerkoetter, Ute
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-218, Article 218
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Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Author / Creator:Kasmi, Zakaria ; Ain El Hayat, Imane ; Aadam, Zahra ; Errami, Abderrahmane ; Benhsaien, Ibtihal ; EL Bakkouri, Jalila ; Ben Sabbahia, Dalal ; Atrassi, Meryem ; Bousfiha, Ahmed Aziz ; Ailal, Fatima
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2025-02, Vol.18 (1), p.25-1, Article 25
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Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib
Author / Creator:Sim, Sang Wan ; Jang, Yuyeon ; Park, Tae Sub ; Park, Byung-Chul ; Lee, Young Mok ; Jun, Hyun Sik
Publisher:Cham: Springer International Publishing
Journal title:Cellular and molecular life sciences : CMLS, 2022-05, Vol.79 (5), p.246-246, Article 246
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Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
Author / Creator:Grünert, Sarah C. ; Venema, Annieke ; LaFreniere, Jamas ; Schneider, Blair ; Contreras, Enrique ; Wortmann, Saskia B. ; Derks, Terry G. J.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-05, Vol.64 (3), p.252-258
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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Author / Creator:Kasmi, Zakaria ; Ain El Hayat, Imane ; Aadam, Zahra ; Errami, Abderrahmane ; Benhsaien, Ibtihal ; EL Bakkouri, Jalila ; Ben Sabbahia, Dalal ; Atrassi, Meryem ; Bousfiha, Ahmed Aziz ; Ailal, Fatima
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2025-01, Vol.18 (1), p.5-7, Article 5
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Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
Author / Creator:Rossi, Alessandro ; Miele, Erasmo ; Fecarotta, Simona ; Veiga-da-Cunha, Maria ; Martinelli, Massimo ; Mollica, Carmine ; D’Armiento, Maria ; Mozzillo, Enza ; Strisciuglio, Pietro ; Derks, Terry G. J. ; Staiano, Annamaria ; Parenti, Giancarlo
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2021-07, Vol.47 (1), p.149-9, Article 149
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Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Author / Creator:Shao, Yong-Xian ; Liang, Cui-Li ; Su, Ya-Ying ; Lin, Yun-Ting ; Lu, Zhi-Kun ; Lin, Rui-Zhu ; Zhou, Zhi-Zi ; Zeng, Chun-Hua ; Tao, Chun-Yan ; Liu, Zong-Cai ; Zhang, Wen ; Liu, Li
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.155-155, Article 155
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Molecular biology and gene therapy for glycogen storage disease type Ib
Author / Creator:Chou, Janice Y ; Jun-Ho, Cho ; Goo-Young, Kim ; Mansfield, Brian C
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1007
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Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib
Author / Creator:Grünert, Sarah Catharina ; Rosenbaum‐Fabian, Stefanie ; Schumann, Anke ; Selbitz, Anne‐Christine ; Merz, Waltraut ; Gieselmann, Andrea ; Spiekerkoetter, Ute
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-07, Vol.63 (4), p.303-308
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Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report
Author / Creator:Meimand, Sepideh Ebrahimi ; Azizi, Gholamreza ; Yazdani, Reza ; Sanadgol, Negin ; Rezaei, Nima
Publisher:New York: Springer US
Journal title:Immunologic research, 2023-02, Vol.71 (1), p.107-111
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Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib
Author / Creator:Xia, Yu ; Sun, Yu ; Du, Taozi ; Sun, Chengkai ; Xu, Ying ; Ge, Wensong ; Liang, Lili ; Wang, Ruifang ; Sun, Manqing ; Xiao, Bing ; Qiu, Wenjuan
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2025-02, Vol.8 (2), p.e2461888
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Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family
Author / Creator:Zeeshan Nazir ; Musharraf Jelani ; Naveed Wasif ; Fakhar Alam
Publisher:Khyber Medical University
Journal title:Khyber Medical University journal, 2025-03, Vol.17 (1), p.26-31
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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib
Author / Creator:Du, Caiqi ; Li, Zhuoguang ; Wei, Hong ; Zhang, Min ; Hu, Minghui ; Zhang, Cai ; Luo, Xiaoping ; Liang, Yan
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-03, Vol.14 (1), p.81-8, Article 81
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Development and characterization of an inducible mouse model for glycogen storage disease type Ib
Author / Creator:Raggi, Federica ; Pissavino, Anna Livia ; Resaz, Roberta ; Segalerba, Daniela ; Puglisi, Andrea ; Vanni, Cristina ; Antonini, Francesca ; Genny Del Zotto ; Gamberucci, Alessandra ; Marcolongo, Paola ; Bosco, Maria Carla ; Grillo, Federica ; Mastracci, Luca ; Alessandra, Eva
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1015
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Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
Author / Creator:Calia, Margherita ; Arosio, Andrea Mario Luciano ; Crescitelli, Viola ; Fornari, Anna ; Pretese, Roberta ; Gasperini, Serena ; Zuin, Giovanna
Publisher:London, England: SAGE Publications
Journal title:Therapeutic advances in gastroenterology, 2023-01, Vol.16
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Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage...
Author / Creator:Ren, Jianwei ; Ma, Yufang ; Ma, Mingsheng ; Ding, Juan ; Jiang, Jingjing ; Zheng, Xin ; Han, Xiaohong
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Analytical and bioanalytical chemistry, 2023-11, Vol.415 (27), p.6863-6871
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The natural history of glycogen storage disease type Ib in England: A multisite survey
Author / Creator:Halligan, Rebecca ; White, Fiona J. ; Schwahn, Bernd ; Stepien, Karolina M. ; Kamarus Jaman, Nazreen ; McSweeney, Mel ; Kitchen, Steve ; Gribben, Joanna ; Dawson, Charlotte ; Lewis, Katherine ; Cregeen, David ; Mundy, Helen ; Santra, Saikat
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.52-59
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Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
Author / Creator:Zhang, Yamei ; Sun, Huihui ; Wan, Naijun
Publisher:London, England: SAGE Publications
Journal title:Journal of international medical research, 2019-12, Vol.47 (12), p.5996-6003
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Showing 1 to 20 of 87 results

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Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model

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Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre

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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

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Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

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Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib

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Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study

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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

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Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

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Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study

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Molecular biology and gene therapy for glycogen storage disease type Ib

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Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib

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Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report

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Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib

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Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family

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Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

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Development and characterization of an inducible mouse model for glycogen storage disease type Ib

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Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report

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Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage...

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The natural history of glycogen storage disease type Ib in England: A multisite survey

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Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

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