المؤلفون: 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.

المصدر: Magnetic resonance in medicine [Magn Reson Med] 2024 Mar; Vol. 91 (3), pp. 1115-1121. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8505245 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-2594 (Electronic) Linking ISSN: 07403194 NLM ISO Abbreviation: Magn Reson Med Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*/diagnostic imaging , Glycogen Storage Disease Type III*/genetics, Animals ; Mice ; Glycogen/metabolism ; Liver Glycogen ; Disease Models, Animal ; Magnetic Resonance Imaging ; Mice, Knockout

المؤلفون: 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.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*/genetics , Glycogen Storage Disease Type III*/therapy , Glycogen Debranching Enzyme System*/genetics, Humans ; Mice ; Rats ; Animals ; Muscle, Skeletal/metabolism ; Glycogen/metabolism ; Transgenes

المؤلفون: 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.

المصدر: Stem cell research [Stem Cell Res] 2023 Oct; Vol. 72, pp. 103214. Date of Electronic Publication: 2023 Sep 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*/metabolism , Glycogen Storage Disease Type III*/pathology , Induced Pluripotent Stem Cells*/metabolism , Glycogen Debranching Enzyme System*, Humans ; Liver/pathology ; Muscles/metabolism ; Muscles/pathology

المؤلفون: 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.

المصدر: European journal of medical research [Eur J Med Res] 2023 Jul 24; Vol. 28 (1), pp. 253. Date of Electronic Publication: 2023 Jul 24.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X (Electronic) Linking ISSN: 09492321 NLM ISO Abbreviation: Eur J Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III* , Physicians*, Humans ; Female ; Male ; Health Personnel ; Hospitals

المؤلفون: Lim JA, Kishnani PS, Sun B

المصدر: JCI insight [JCI Insight] 2022 Dec 08; Vol. 7 (23). Date of Electronic Publication: 2022 Dec 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*, Mice ; Animals ; T-Lymphocytes, Cytotoxic ; Genetic Therapy ; Glycogen

SCR Disease Name: Glycogen Storage Disease IIIA

المؤلفون: Wang J; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China., Yu Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Cai C; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Tianjin Pediatric Research Institute, 300134, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China., Zhi X; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Zhang Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Zhao Y; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China., Shu J; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Pediatric Research Institute, 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, 300134, Tianjin, China. jianboshu1981@sina.com.

المصدر: BMC pediatrics [BMC Pediatr] 2022 May 16; Vol. 22 (1), pp. 284. Date of Electronic Publication: 2022 May 16.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type III*/diagnosis , Glycogen Storage Disease Type III*/genetics , Hypoglycemia*, China ; Hepatomegaly ; Humans ; Mutation ; Transaminases

المؤلفون: Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran., Shamsaeefar A; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Kazemi K; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Nikeghbalian S; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Bahador A; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Dehghani M; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Malekhosseini SA; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Geramizadeh B; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran. geramib@gmail.com.; Department of Pathology, Medical School of Shiraz University, Shiraz University of Medical Sciences, Shiraz, Iran. geramib@gmail.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 21; Vol. 17 (1), pp. 127. Date of Electronic Publication: 2022 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease*/diagnosis , Glycogen Storage Disease*/metabolism , Glycogen Storage Disease*/surgery , Glycogen Storage Disease Type I*/complications , Glycogen Storage Disease Type I*/metabolism , Glycogen Storage Disease Type I*/surgery , Glycogen Storage Disease Type III*/complications , Glycogen Storage Disease Type III*/metabolism , Glycogen Storage Disease Type VI*/complications , Glycogen Storage Disease Type VI*/metabolism , Liver Transplantation*, Humans ; Liver/metabolism ; Retrospective Studies

المؤلفون: Michaud M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France. Electronic address: m.michaud@chru-nancy.fr., Dillier C; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France., Selton M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France., Michot N; Department of Endocrinology, Diabetology and Nutrition, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France., Metzdorf A; Department of Cardiology, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France., Debouverie M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.

المصدر: Revue neurologique [Rev Neurol (Paris)] 2022 Apr; Vol. 178 (4), pp. 391-393. Date of Electronic Publication: 2021 Dec 09.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Masson Country of Publication: France NLM ID: 2984779R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0035-3787 (Print) Linking ISSN: 00353787 NLM ISO Abbreviation: Rev Neurol (Paris) Subsets: MEDLINE

مواضيع طبية MeSH: Cognitive Dysfunction*/diagnosis , Cognitive Dysfunction*/etiology , Glycogen Storage Disease* , Glycogen Storage Disease Type III* , Heart Failure*/complications , Heart Failure*/diagnosis, Humans ; Liver

المؤلفون: İnci A; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey., Kılıç Yıldırım G; Department of Pediatric Metabolism and Nutrition, Osmangazi University School of Medicine, Eskisehir, Turkey., Cengiz Ergin FB; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey., Sarı S; Department of Pediatric Gastroenterology and Hepatology, Gazi University School of Medicine, Ankara, Turkey., Eğritaş Gürkan Ö; Department of Pediatric Gastroenterology and Hepatology, Gazi University School of Medicine, Ankara, Turkey., Okur İ; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey., Biberoğlu G; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey., Bükülmez A; Department of Pediatric Gastroenterology and Hepatology, Afyon Kocatepe University School of Medicine, Afyon, Turkey., Ezgü FS; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey., Dalgıç B; Department of Pediatric Gastroenterology and Hepatology, Gazi University School of Medicine, Ankara, Turkey., Tümer L; Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Jan 17; Vol. 35 (4), pp. 451-462. Date of Electronic Publication: 2022 Jan 17 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease*/diagnosis , Glycogen Storage Disease*/genetics , Glycogen Storage Disease Type III*/diagnosis , Glycogen Storage Disease Type III*/genetics, Hepatomegaly ; Humans ; Mutation ; Phosphorylase Kinase/genetics

SCR Disease Name: Glycogen Storage Disease Type Ix

المؤلفون: Wang H; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China., Huo L; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China., Wang Y; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Sun W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Gu W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1779. Date of Electronic Publication: 2021 Aug 18.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 1* , Paternal Inheritance* , Uniparental Disomy*, Glycogen Storage Disease Type III/*complications , Glycogen Storage Disease Type III/*diagnosis , Usher Syndromes/*complications , Usher Syndromes/*diagnosis, Adult ; Biomarkers ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glycogen Debranching Enzyme System/chemistry ; Glycogen Debranching Enzyme System/genetics ; Glycogen Storage Disease Type III/etiology ; Glycogen Storage Disease Type III/metabolism ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Sequence Analysis, DNA ; Structure-Activity Relationship ; Usher Syndromes/etiology ; Usher Syndromes/metabolism ; Exome Sequencing

SCR Disease Name: Usher syndrome, type 2A