Zobrazeno 1 - 10
of 982
pro vyhledávání: '"GLYCOGEN storage disease type III"'
Autor:
Zhang XY; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai201102, China., Zhang P; Molecular Medical Center, Children's Hospital of Fudan University, Shanghai201102, China., Feng JY; Department of Pathology, Children's Hospital of Fudan University, Shanghai201102, China., Li XH; Neuromuscular Molecular Pathology Diagnosis Laboratory, Children's Hospital of Fudan University, Shanghai201102, China., Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai201102, China., Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai201102, China., Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai201102, China.
Publikováno v:
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology [Zhonghua Gan Zang Bing Za Zhi] 2024 Nov 20; Vol. 32 (11), pp. 1005-1012.
Autor:
Bonnet JB; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France; UMR 1302, Institute Desbrest of Epidemiology and Public Health, Univ Montpellier, INSERM, University Hospital of Montpellier, Montpellier, France. Electronic address: jean-baptiste-bonnet@chu-montpellier.fr., Fasolo M; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France., Marty L; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France., Galibert L; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France., Richard CD; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France., Sultan A; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France; PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, Montpellier, France., Attalin V; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France., Avignon A; Nutrition-Diabetes Department, University Hospital of Montpellier, Montpellier, France; UMR 1302, Institute Desbrest of Epidemiology and Public Health, Univ Montpellier, INSERM, University Hospital of Montpellier, Montpellier, France.
Publikováno v:
Clinical nutrition ESPEN [Clin Nutr ESPEN] 2024 Dec; Vol. 64, pp. 519-524. Date of Electronic Publication: 2024 Nov 15.
Autor:
Mishra K; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Sweetat S; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Baraghithy S; Obesity and Metabolism Laboratory, Institute for Drug Research, School of Pharmacy, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Sprecher U; The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv 6997801, Israel., Marisat M; The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv 6997801, Israel., Bastu S; Centre de Reference de Maladies Neuromusculaires, UPEC-Paris Est University, IMRB INSERM U955, Team Biology of the Neuromuscular System, Faculty of Medicine, APHP Hopital Henri Mondor, 1 Rue Gustave Eiffel, 94010 Creteil, France., Glickstein H; Electron Microscopy Unit, The Hebrew University-Hadassah Medical School, Ein Kerem, Jerusalem 9112001, Israel., Tam J; Obesity and Metabolism Laboratory, Institute for Drug Research, School of Pharmacy, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel., Rosenmann H; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Weil M; The Shmunis School of Biomedicine and Cancer Research, The George S. Wise Faculty for Life Sciences, Sagol School of Neurosciences, Tel Aviv University, Tel Aviv 6997801, Israel., Malfatti E; Centre de Reference de Maladies Neuromusculaires, UPEC-Paris Est University, IMRB INSERM U955, Team Biology of the Neuromuscular System, Faculty of Medicine, APHP Hopital Henri Mondor, 1 Rue Gustave Eiffel, 94010 Creteil, France., Kakhlon O; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel.
Publikováno v:
Biomolecules [Biomolecules] 2024 Jul 24; Vol. 14 (8). Date of Electronic Publication: 2024 Jul 24.
Autor:
Kalkan Uçar S; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Altınok YA; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Mansuroglu Y; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Canda E; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Yazıcı H; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Çelik MY; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Erdem F; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Yanbolu AY; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Ülger Z; Department of Pediatrics, Division of Pediatric Cardiology, Ege University Medical Faculty, Izmir, Turkey., Çoker M; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Sep; Vol. 47 (5), pp. 1001-1017. Date of Electronic Publication: 2024 Apr 16.
Autor:
Zeng Q; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Machado M; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Bie C; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., van Zijl PCM; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Malvar S; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Li Y; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., D'souza V; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA., Poon KA; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Grimm A; Ultragenyx Pharmaceutical Inc., Novato, California, USA., Yadav NN; Russell H. Morgan Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Publikováno v:
Magnetic resonance in medicine [Magn Reson Med] 2024 Mar; Vol. 91 (3), pp. 1115-1121. Date of Electronic Publication: 2023 Nov 27.
Autor:
Gardin A; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Rouillon J; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Montalvo-Romeral V; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Rossiaud L; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France.; CECS, I-STEM, Institute for Stem Cell Therapy and Exploration of Monogenic Diseases, Corbeil-Essonnes, France., Vidal P; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Launay R; Toulouse Biotechnology Institute, TBI, Université de Toulouse, CNRS, INRAE, INSA, Toulouse, France., Vie M; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Krimi Benchekroun Y; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Cosette J; Genethon, Evry, France., Bertin B; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., La Bella T; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Dubreuil G; Genethon, Evry, France., Nozi J; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Jauze L; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France., Fragnoud R; Genethon, Evry, France., Daniele N; Genethon, Evry, France., Van Wittenberghe L; Genethon, Evry, France., Esque J; Toulouse Biotechnology Institute, TBI, Université de Toulouse, CNRS, INRAE, INSA, Toulouse, France., André I; Toulouse Biotechnology Institute, TBI, Université de Toulouse, CNRS, INRAE, INSA, Toulouse, France., Nissan X; CECS, I-STEM, Institute for Stem Cell Therapy and Exploration of Monogenic Diseases, Corbeil-Essonnes, France., Hoch L; CECS, I-STEM, Institute for Stem Cell Therapy and Exploration of Monogenic Diseases, Corbeil-Essonnes, France., Ronzitti G; Genethon, Evry, France.; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry, France.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.
Autor:
Triggiani D; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy.; AIG, Associazione Italiana Glicogenosi, ONLUS, Via Roma, 2/G 20090 Assago, Milan, Italy., Demurtas OC; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy., Illiano E; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy., Massa S; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy., Pasquo A; Department of FSNTECFIS-DIM ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Frascati Research Center, Via Enrico Fermi 45, 00044, Frascati RM, Italy., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Ospedale Pediatrico Bambino Gesù IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Marino C; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy., Giuliano G; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy., Franconi R; Department of Sustainability, ENEA, Italian National Agency for New Technologies, Energy and Sustainable Economic Development, Casaccia Research Center, Via Anguillarese 301, 00123, Rome, Italy.
Publikováno v:
Protein and peptide letters [Protein Pept Lett] 2024; Vol. 31 (7), pp. 519-531.
Autor:
Rossiaud L; CECS, I-Stem, Corbeil-Essonne 91100, France; INSERM U861, I-Stem, Corbeil-Essonne 91100, France; UEVE U861, I-Stem, Corbeil-Essonne 91100, France; Genethon, 91000 Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research Unit UMR_S951, 91000 Evry, France., Pellier E; CECS, I-Stem, Corbeil-Essonne 91100, France; INSERM U861, I-Stem, Corbeil-Essonne 91100, France; UEVE U861, I-Stem, Corbeil-Essonne 91100, France., Benabides M; CECS, I-Stem, Corbeil-Essonne 91100, France; INSERM U861, I-Stem, Corbeil-Essonne 91100, France; UEVE U861, I-Stem, Corbeil-Essonne 91100, France., Nissan X; CECS, I-Stem, Corbeil-Essonne 91100, France; INSERM U861, I-Stem, Corbeil-Essonne 91100, France; UEVE U861, I-Stem, Corbeil-Essonne 91100, France., Ronzitti G; Genethon, 91000 Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research Unit UMR_S951, 91000 Evry, France., Hoch L; CECS, I-Stem, Corbeil-Essonne 91100, France; INSERM U861, I-Stem, Corbeil-Essonne 91100, France; UEVE U861, I-Stem, Corbeil-Essonne 91100, France. Electronic address: lhoch@istem.fr.
Publikováno v:
Stem cell research [Stem Cell Res] 2023 Oct; Vol. 72, pp. 103214. Date of Electronic Publication: 2023 Sep 23.
Autor:
Wicker C; Maladies métaboliques et hépatiques pédiatriques, CHRU Hautepierre, 1 Avenue Molière, 67200, Strasbourg, France., Cano A; Centre de Référence des Maladies Héréditaires du Métabolisme- CHU La Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille cedex 5, France., Decostre V; Institut de myologie, Groupe Hospitalier Pitié-Salpêtrière, APHP. Université Paris Sorbonne, 47-83 boulevard de l'Hôpital, 75651, Paris Cedex 13, France., Froissart R; Centre de Biologie et pathologie Est, maladies héréditaires du métabolisme, HFME, 59, Boulevard Pinel, 69677, Bron Cedex, France., Maillot F; Médecine Interne, Centre Référence Maladies Métaboliques, hôpital Bretonneau, 2 boulevard Tonnelé, 37044, Tours cedex 9, France., Perry A; Pédiatrie, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, APHP Université Paris-Saclay, 92141, Clamart Cedex, France., Petit F; Laboratoire de génétique, Hôpital Antoine Béclère, APHP. Université Paris-Saclay, 92141, Clamart Cedex, France., Voillot C; Pédiatrie, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, APHP Université Paris-Saclay, 92141, Clamart Cedex, France., Wahbi K; Service de cardiologie - Hôpital Cochin, APHP. Université Paris Centre, 27 rue du Faubourg Saint-Jacques, 75014, Paris, France., Wenz J; Service d'hépatologie et transplantation hépatique pédiatriques, hôpital Bicêtre, APHP. Université Paris-Saclay, 94276, Le Kremlin Bicêtre Cedex, France., Laforêt P; Neurologie, Centre de Référence Maladies Neuromusculaires Nord/Est/Ile de France Hôpital Raymond Poincaré, AP-HP, Université Paris Saclay, 104 Boulevard Raymond Poincaré, 92380, Garches, France., Labrune P; Pédiatrie, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, APHP Université Paris-Saclay, 92141, Clamart Cedex, France. philippe.labrune@aphp.fr.
Publikováno v:
European journal of medical research [Eur J Med Res] 2023 Jul 24; Vol. 28 (1), pp. 253. Date of Electronic Publication: 2023 Jul 24.
Autor:
Rauber C; Department of Internal Medicine IV, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: Conrad.rauber@med.uni-heidelberg.de., Pfeiffenberger J; Department of Internal Medicine IV, University Hospital Heidelberg, Heidelberg, Germany., Mehrabi A; Department of General, Visceral and Transplantation Surgery, University Hospital Heidelberg, Heidelberg, Germany., Mieth M; Department of General, Visceral and Transplantation Surgery, University Hospital Heidelberg, Heidelberg, Germany., Zizer E; Department of Gastroenterology, University Hospital Ulm, Ulm, Germany., Merle U; Department of Internal Medicine IV, University Hospital Heidelberg, Heidelberg, Germany.
Publikováno v:
Transplantation proceedings [Transplant Proc] 2024 Jun; Vol. 56 (5), pp. 1153-1156. Date of Electronic Publication: 2024 Jun 04.