المؤلفون: Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer

المصدر: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100977- (2023)

مصطلحات موضوعية: Glycogen storage disease Ib, GSD1b, Liver transplantation, SGLT2 inhibitor, Empagliflozin, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692300023X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/e049a4635f7e47b9a9cc6f2834fe2e5d

المؤلفون: Diederich, Jennifer, Mounkoro, Pierre, Tirado Cardenas, Hernan, Chevalier, Nathalie, Van Schaftingen, Emile, Veiga da Cunha, Maria

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Cellular and molecular life sciences : CMLS, Vol. 80, no.9, p. 259 (2023)

مصطلحات موضوعية: Animals, Humans, Mice, Antiporters, HEK293 Cells, Kidney, Membrane Transport Proteins, Monosaccharide Transport Proteins, Neutropenia, Sodium-Glucose Transporter 2, 5-Anhydroglucitol, Empagliflozin, G6PC3-deficiency, GSD1b, Glycogen storage disease type Ib, SCN4, SGLT2-inhibitors, SGLT4, SGLT5

Time: 1

Relation: boreal:277497; http://hdl.handle.net/2078.1/277497; info:pmid/37594549; urn:ISSN:1420-9071; urn:EISSN:1420-9071

الاتاحة: http://hdl.handle.net/2078.1/277497
https://doi.org/10.1007/s00018-023-04884-8

المؤلفون: Dewulf, Joseph P., Marie, Sandrine, Chevalier, Nathalie, Veiga da Cunha, Maria

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de biochimie médicale, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology

المصدر: Molecular Genetics and Metabolism, Vol. 140, no. 3 (2023)

مصطلحات موضوعية: GSD1B, G6PC3, SGLT2 inhibitors, Neutropenia, 5-anhydroglucitol, Dried blood spots monitoring, Diabetes, Glifozins

Time: 1

Relation: boreal:279096; http://hdl.handle.net/2078.1/279096; urn:ISSN:1096-7192; urn:EISSN:1096-7206

الاتاحة: http://hdl.handle.net/2078.1/279096

المؤلفون: Boulanger, Cécile, Stéphenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Veiga da Cunha, Maria

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/DDUV/GEPI - Epigénétique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

المصدر: Journal of inherited metabolic disease, Vol. 45, no. 4, p. 759-768 (2022)

مصطلحات موضوعية: Animals, Antiporters, Benzhydryl Compounds, Glucose-6-Phosphatase, Glucosides, Glycogen Storage Disease Type I, Humans, Mice, Monosaccharide Transport Proteins, Mutation, Neutropenia, Phosphoric Monoester Hydrolases, Sodium-Glucose Transport Proteins, 5-anhydroglucitol, G6PC3-deficiency, GSD1b, SGLT2-inhibitors, SGLT5, empagliflozin, glycogen Storage Disease 1b

Time: 1

Relation: boreal:271399; http://hdl.handle.net/2078.1/271399; info:pmid/35506446; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الاتاحة: http://hdl.handle.net/2078.1/271399
https://doi.org/10.1002/jimd.12509

المؤلفون: Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: GSD1b, Autozygosity mapping, Novel variants, Genotype-phenotype correlation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c110bca804f849a2a1b586e83681d2f8

المؤلفون: Cécile Boulanger, Xavier Stephenne, Jennifer Diederich, Pierre Mounkoro, Nathalie Chevalier, Alina Ferster, Emile Van Schaftingen, Maria Veiga‐da‐Cunha

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 759-768 (2022)
Journal of Inherited Metabolic Disease, (2022)

مصطلحات موضوعية: Neutropenia, Monosaccharide Transport Proteins, 5-anhydroglucitol, empagliflozin, Glycogen Storage Disease Type I, urologic and male genital diseases, Sodium-Glucose Transport Proteins, Antiporters, SGLT5, Mice, Glucosides, SGLT2-inhibitors, Genetics, Animals, Humans, glycogen Storage Disease 1b, Benzhydryl Compounds, Genetics (clinical), Phosphoric Monoester Hydrolases, G6PC3-deficiency, glcogen storage disease 1b, Mutation, Glucose-6-Phosphatase, GSD1b, 1.5-anhydroglucitol

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9b0fe48088ade98cbbb3f39c832555d
https://pubmed.ncbi.nlm.nih.gov/35506446

المؤلفون: Saeed Talebi, Zahra Noroozi, Maryam Eghbali, Ali Rabbani, Mehri Najafi, Fatemeh Yazarlou, Mohammad Hossein Modarressi, Marjan Shakiba, Maryam Abiri, Hosein Alimadadi, Parastoo Rostami

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: G6PC, Genotype-phenotype correlation, Monosaccharide Transport Proteins, lcsh:Medicine, Context (language use), Biology, Glycogen Storage Disease Type I, Iran, Antiporters, Frameshift mutation, Genotype, medicine, Missense mutation, Glycogen storage disease, Humans, Pharmacology (medical), Gene, Genetics (clinical), Genetic Association Studies, Genetics, Research, lcsh:R, General Medicine, medicine.disease, Autozygosity mapping, Phenotype, Mutation, Microsatellite, Novel variants, GSD1b

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f7e4bddde56a9a84dffe43945d8f3c
http://europepmc.org/articles/PMC6995048

المؤلفون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Boulanger, Cécile, Stephenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Vega-da-Cunha, Maria

المصدر: Journal of Inherited Metabolic Disease, (2022)

مصطلحات الفهرس: G6PC3-deficiency, GSD1b, SGLT2-inhibitors, SGLT5, empagliflozin, glcogen storage disease 1b, neutropenia, 1.5-anhydroglucitol, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/261317

المؤلفون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, Boulanger, Cécile, Stéphenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Veiga da Cunha, Maria

المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 759-768 (2022)

مصطلحات الفهرس: Animals, Antiporters, Benzhydryl Compounds, Glucose-6-Phosphatase, Glucosides, Glycogen Storage Disease Type I, Humans, Mice, Monosaccharide Transport Proteins, Mutation, Neutropenia, Phosphoric Monoester Hydrolases, Sodium-Glucose Transport Proteins, 1, 5-anhydroglucitol, G6PC3-deficiency, GSD1b, SGLT2-inhibitors, SGLT5, empagliflozin, glycogen Storage Disease 1b, neutropenia, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/271399

المؤلفون: Boulanger, Cecile, Stephenne, Xavier, Diederich, Jennifer, Mounkoro, Pierre, Chevalier, Nathalie, Ferster, Alina, Van Schaftingen, Emile, Veiga-Da-Cunha, Maria

المصدر: Journal of inherited metabolic disease

مصطلحات الفهرس: Biologie, Génétique clinique, 1,5-anhydroglucitol, empagliflozin, G6PC3-deficiency, glycogen Storage Disease 1b, GSD1b, neutropenia, SGLT2-inhibitors, SGLT5, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/344340/3/JofInherMetab.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/344340
https://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL