المؤلفون: Peeks, Fabian, Steunenberg, Thomas A. H., de Boer, Foekje, Rubio-Gozalbo, M. Estela, Williams, Monique, Burghard, Rob, Rajas, Fabienne, Oosterveer, Maaike H., Weinstein, David A., Derks, Terry G. J.

المصدر: Peeks , F , Steunenberg , T A H , de Boer , F , Rubio-Gozalbo , M E , Williams , M , Burghard , R , Rajas , F , Oosterveer , M H , Weinstein , D A & Derks , T G J 2017 , ' Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA : the added value of CUSUM for metabolic control ' , Journal of Inherited Metabolic Disease , vol. 40 , no. 5 , pp. 695-702 . https://doi.org/10.1007/s10545-017-0039-1Test

مصطلحات موضوعية: CUSUM, ESGSDI, GSD Ia, G6PC, Heterogeneity, Modifying factors, GLUCOSE-6-PHOSPHATASE GENE, GLUCOSE-PRODUCTION, G6PC GENE, MUTATIONS, 1A, INFANCY

الإتاحة: https://doi.org/10.1007/s10545-017-0039-1Test
https://cris.maastrichtuniversity.nl/en/publications/0f5ca43b-5b89-4f59-88f0-874934863dc4Test

المؤلفون: Maaike H. Oosterveer, Rob Burghard, Fabian Peeks, Fabienne Rajas, Thomas A. H. Steunenberg, Terry G J Derks, Monique Williams, David A. Weinstein, Foekje de Boer, M. Estela Rubio-Gozalbo

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, University Medical Center Groningen [Groningen] (UMCG), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Erasmus University Rotterdam, EnerGQcare BV [Groningen], Nutrition, diabète et cerveau (NUDICE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Connecticut School of Medicine, University of Connecticut (UCONN), Connecticut Children's Medical Center, Di Carlo, Marie-Ange, Nutrition, diabète et cerveau, Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 40(5), 695-702. SPRINGER
Journal of Inherited Metabolic Disease, 40(5), 695-702. Wiley
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2017, 40 (5), pp.695-702. ⟨10.1007/s10545-017-0039-1⟩
Journal of Inherited Metabolic Disease, 40(5), 695-702. Springer Netherlands

مصطلحات موضوعية: Male, 0301 basic medicine, G6PC, Glycogen Storage Disease Type I, 030105 genetics & heredity, chemistry.chemical_compound, Genotype, CUSUM, Longitudinal Studies, Child, Genetics (clinical), ESGSDI, Glycogen storage disease type I, GLUCOSE-6-PHOSPHATASE GENE, Homozygote, Cholesterol, Child, Preschool, Glucose-6-Phosphatase, INFANCY, Female, Original Article, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Adult, medicine.medical_specialty, Adolescent, GLUCOSE-PRODUCTION, Biology, Carbohydrate metabolism, Nephropathy, Young Adult, 03 medical and health sciences, G6PC GENE, Internal medicine, Genetics, medicine, Modifying factors, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Triglycerides, Retrospective Studies, Triglyceride, MUTATIONS, nutritional and metabolic diseases, medicine.disease, Endocrinology, chemistry, Metabolic control analysis, Mutation, Uric acid, GSD Ia, Heterogeneity, 1A

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044b9958ef9974b9063035e49273c0f9Test
https://research.rug.nl/en/publications/0d43a3f9-a916-4e4f-a50d-72de23c54dd8Test

المصدر: American Journal of Clinical Nutrition. 88(5):1272-1276

مصطلحات موضوعية: GLUCOSE-6-PHOSPHATASE GENE, UNCOOKED CORNSTARCH, MUTATIONS, COMPLEX CARBOHYDRATE, CONTINUOUS GLUCOSE, GLYCEMIC INDEX, TOLERANCE, METABOLISM, LACTATE, RESPONSES

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___01423::22de70974a8f533fe5db4aa4d81b8802Test
https://doi.org/10.3945/ajcn.2008.26352Test

المصدر: Shock. 19(1):45-49

مصطلحات موضوعية: MULTIPLE ORGAN FAILURE, GLUCOSE-6-PHOSPHATASE GENE, CARNITINE-PALMITOYLTRANSFERASE, ornithine transcarbamylase, Mrp2, 5'-FLANKING REGION, C/EBP, Ntcp, carnitine palmitoyltransferase II, SYSTEMIC INFLAMMATORY RESPONSE, digestive system, sepsis, systemic inflammatory response syndrome, HNF-1, FUNCTIONAL-CHARACTERIZATION, HNF-3, PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE, CCAAT/ENHANCER-BINDING PROTEIN, NUCLEAR FACTOR-I, ACID COTRANSPORTER

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___00893::a54375263121f65908b9092373ad91bfTest
https://doi.org/10.1097/01.shk.0000048076.51778.b6Test

المؤلفون: Correia, Catherine E., Bhattacharya, Kaustuv, Lee, Philip J., Shuster, Jonathan J., Theriaque, Douglas W., Shankar, Meena N., Smit, G. Peter A., Weinstein, David A.

المصدر: Correia , C E , Bhattacharya , K , Lee , P J , Shuster , J J , Theriaque , D W , Shankar , M N , Smit , G P A & Weinstein , D A 2008 , ' Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib ' , American Journal of Clinical Nutrition , vol. 88 , no. 5 , pp. 1272-1276 . https://doi.org/10.3945/ajcn.2008.26352Test

مصطلحات موضوعية: UNCOOKED CORNSTARCH, GLUCOSE-6-PHOSPHATASE GENE, COMPLEX CARBOHYDRATE, CONTINUOUS GLUCOSE, GLYCEMIC INDEX, RESPONSES, METABOLISM, MUTATIONS, TOLERANCE, LACTATE

العلاقة: https://research.rug.nl/en/publications/9354688f-99c1-42bc-834c-27fc3385996eTest

الإتاحة: https://doi.org/10.3945/ajcn.2008.26352Test
https://hdl.handle.net/11370/9354688f-99c1-42bc-834c-27fc3385996eTest
https://research.rug.nl/en/publications/9354688f-99c1-42bc-834c-27fc3385996eTest

المؤلفون: Walter, Philippe L., Kampkötter, Andreas, Eckers, Anna, Barthel, Andreas, Schmoll, Dieter, Sies, Helmut, Klotz, Lars-Oliver

المصدر: Archives of biochemistry and biophysics

مصطلحات موضوعية: ddc:610, ACTIVATION, Akt, C. elcgans, CAENORHABDITIS-ELEGANS, COPPER, DAF-16, glucose 6-phosphatase, GLUCOSE-6-PHOSPHATASE GENE-EXPRESSION, INSULIN, KINASE, PATHWAY, PHOSPHOINOSITIDE 3-KINASE, phosphoinositide 3-kinase (PI3K), promoter, Promoter Regions (Genetics), protein kinase, protein kinase B, stress signaling, SURVIVAL, TRANSCRIPTION FACTOR FKHR

وصف الملف: 107–113

العلاقة: urn:issn:0003-9861

الإتاحة: https://bibliographie.ub.rub.de/entry/2dfcee18-570b-45da-9ea3-5fc5538a9abeTest

المؤلفون: Bulut, Kerem, Meier, Juris, Ansorge, Nikolaus Daniel Thomas, Felderbauer, Peter, Schmitz, F., Hoffmann, Peter, Schmidt, Wolfgang E., Gallwitz, Baptist

المصدر: Regulatory peptides

مصطلحات موضوعية: ddc:610, ACTIVATION, B/AKT, BINDING, CONSTRUCTION, dexamethasone, diabetes, FKHR, gene expression, GLUCOSE-6-PHOSPHATASE GENE-EXPRESSION, INSULIN, INSULIN-RESPONSE SEQUENCE, LIVER, PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE, PKB, PROMOTER ACTIVITY, transactivation

وصف الملف: 137–143

العلاقة: urn:issn:1873-1686

الإتاحة: https://bibliographie.ub.rub.de/entry/7a02252c-2e9c-4298-8eee-8d2847d3e6a7Test

المؤلفون: Orth, Hans-Martin, Krüger, Klaus-Dieter, Schmoll, Dieter, Grempler, Rolf, Scherbaum, Werner A., Joost, Hans-Georg, Bornstein, Stefan R., Barthel, Andreas

المصدر: Regulatory peptides

مصطلحات موضوعية: ddc:610, ACTIVATION, B/AKT, BINDING, CONSTRUCTION, dexamethasone, diabetes, FKHR, gene expression, GLUCOSE-6-PHOSPHATASE GENE-EXPRESSION, INSULIN, INSULIN-RESPONSE SEQUENCE, LIVER, PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE, PKB, PROMOTER ACTIVITY, transactivation

وصف الملف: 19–24

العلاقة: urn:issn:1873-1686

الإتاحة: https://bibliographie.ub.rub.de/entry/655ec4ad-6233-41ee-8f1b-b23036425d67Test

المؤلفون: Haaxma, CA, Kim, PK, Andrejko, KM, Raj, NR, Deutschman, CS

المصدر: Haaxma , CA , Kim , PK , Andrejko , KM , Raj , NR & Deutschman , CS 2003 , ' Transcription factors C/EBP-alpha and HNF-1 alpha are associated with decreased expression of liver-specific genes in sepsis ' , Shock , vol. 19 , no. 1 , pp. 45-49 . https://doi.org/10.1097/01.shk.0000048076.51778.b6Test

مصطلحات موضوعية: C/EBP, HNF-1, HNF-3, sepsis, systemic inflammatory response syndrome, Ntcp, Mrp2, carnitine palmitoyltransferase II, ornithine transcarbamylase, PHOSPHOENOLPYRUVATE CARBOXYKINASE GENE, SYSTEMIC INFLAMMATORY RESPONSE, CCAAT/ENHANCER-BINDING PROTEIN, MULTIPLE ORGAN FAILURE, NUCLEAR FACTOR-I, CARNITINE-PALMITOYLTRANSFERASE, FUNCTIONAL-CHARACTERIZATION, GLUCOSE-6-PHOSPHATASE GENE, ACID COTRANSPORTER, 5'-FLANKING REGION

العلاقة: https://research.rug.nl/en/publications/f31c3d15-ef51-419a-89ed-bc538c14bc54Test

الإتاحة: https://doi.org/10.1097/01.shk.0000048076.51778.b6Test
https://hdl.handle.net/11370/f31c3d15-ef51-419a-89ed-bc538c14bc54Test
https://research.rug.nl/en/publications/f31c3d15-ef51-419a-89ed-bc538c14bc54Test

المؤلفون: Lee WJ, Lee HM, Chi CS, Shu SG, Lin LY, Lin WH

المساهمون: 林立元

مصطلحات موضوعية: glucose-6-phosphatase gene, single nucleotide substitution, type 1a glycogen storage disease

الوقت: 39

وصف الملف: 105 bytes; text/html

العلاقة: CLINICAL GENETICS,Blackwell Publishing,Volume 50,Issue 4,OCT 1996,Pages 206-211; http://nthur.lib.nthu.edu.tw/dspace/handle/987654321/48717Test

الإتاحة: http://nthur.lib.nthu.edu.tw/dspace/handle/987654321/48717Test