المؤلفون: Doğruel H; Endocrinology and Metabolism, Antalya City Hospital, Antalya, 07080, Turkey., Aydemir M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey., Yılmaz N; Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey. nusretyilmaz@akdeniz.edu.tr., Sarı R; Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey.

المصدر: Irish journal of medical science [Ir J Med Sci] 2024 Jun; Vol. 193 (3), pp. 1267-1273. Date of Electronic Publication: 2024 Jan 25.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Royal Academy of Medicine of Ireland Country of Publication: Ireland NLM ID: 7806864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1863-4362 (Electronic) Linking ISSN: 00211265 NLM ISO Abbreviation: Ir J Med Sci Subsets: MEDLINE

مواضيع طبية MeSH: Hypoglycemia*/genetics , Hypoglycemia*/etiology , Fructose-1,6-Diphosphatase Deficiency*/genetics , Fructose-1,6-Diphosphatase Deficiency*/complications, Humans ; Male ; Adult ; Mutation

المؤلفون: Almousa M; Faculty of Medicine, Hama University, Hama, Syria. maher.almousa@syssr.org., Aljomaa M; Department of Gastroenterology, Aleppo University Hospital, University of Aleppo, Aleppo, Syria., Hamey S; Faculty of Medicine, Damascus University, Damascus, Syria., Alasmar D; Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.

المصدر: Journal of medical case reports [J Med Case Rep] 2024 Apr 09; Vol. 18 (1), pp. 166. Date of Electronic Publication: 2024 Apr 09.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*/complications , Fructose-1,6-Diphosphatase Deficiency*/diagnosis , Fructose-1,6-Diphosphatase Deficiency*/genetics, Child, Preschool ; Humans ; Documentation ; Ethnicity ; Fructose ; Fructose-Bisphosphatase/genetics ; Homozygote ; Mutation ; Sequence Deletion

المؤلفون: Xin B; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Chen H; Department of Emergency Medicine, Dalian Women and Children's Medical Group, Dalian, Liaoning, China., Liu T; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China., Wu Y; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Hu Q; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Dong X; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.; College of Pharmacy, Dalian Medical University, Dalian, Liaoning, China., Li Z; Department of Pharmaceutics, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2339. Date of Electronic Publication: 2023 Dec 19.

نوع المنشور: Case Reports; Journal Article

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: Acidosis, Lactic*/genetics , Fructose-1,6-Diphosphatase Deficiency*/diagnosis , Fructose-1,6-Diphosphatase Deficiency*/genetics , Hypoglycemia*/genetics, Male ; Humans ; Child ; Fructose-Bisphosphatase/genetics ; Fructose-Bisphosphatase/metabolism ; Mutation

المؤلفون: Sakuma I; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Nagano H; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Hashimoto N; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan.; Research Institute of Disaster Medicine, Chiba University, Chiba, 260-8670, Japan., Fujimoto M; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan.; Department of Endocrinology, Hematology and Gerontology, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Nakayama A; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Fuchigami T; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Taki Y; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Matsuda T; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Akamine H; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Kono S; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Kono T; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Yokoyama M; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Nishimura M; Division of Laboratory Medicine and Clinical Genetics, Chiba University Hospital, Chiba, 260-8670, Japan., Yokote K; Department of Endocrinology, Hematology and Gerontology, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan., Ogasawara T; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan., Fujii Y; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan., Ogawa S; Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan., Lee E; Research Institute of Disaster Medicine, Chiba University, Chiba, 260-8670, Japan.; Department of Medical Physiology, Chiba University, Graduate School of Medicine, Chiba, 260-8670, Japan., Miki T; Research Institute of Disaster Medicine, Chiba University, Chiba, 260-8670, Japan.; Department of Medical Physiology, Chiba University, Graduate School of Medicine, Chiba, 260-8670, Japan., Tanaka T; Department of Molecular Diagnosis, Graduate School of Medicine Chiba University, Chiba, 260-8670, Japan. tomoaki@restaff.chiba-u.jp.; Research Institute of Disaster Medicine, Chiba University, Chiba, 260-8670, Japan. tomoaki@restaff.chiba-u.jp.

المصدر: Communications biology [Commun Biol] 2023 Jul 28; Vol. 6 (1), pp. 787. Date of Electronic Publication: 2023 Jul 28.

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

بيانات الدورية: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*/genetics , Fructose-1,6-Diphosphatase Deficiency*/complications , Acidosis, Lactic*/complications , Acidosis, Lactic*/genetics, Humans ; Fructose-Bisphosphatase/genetics ; Fructose-Bisphosphatase/metabolism ; Fructose ; Phenotype ; Genotype ; Hypoglycemic Agents

المؤلفون: Liang X; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China; Department of Central Laboratory, Binzhou People's Hospital, Shandong, 256600, China., Liu X; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China., Li W; Department of Cardiology, Binzhou People's Hospital, Shandong, 256600, China., Zhang L; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China., Zhang B; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China., Lai G; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China., Zhao Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China. Electronic address: yyzhao@sj-hospital.org.

المصدر: Archives of biochemistry and biophysics [Arch Biochem Biophys] 2023 Jul 01; Vol. 742, pp. 109619. Date of Electronic Publication: 2023 May 02.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0384 (Electronic) Linking ISSN: 00039861 NLM ISO Abbreviation: Arch Biochem Biophys Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*/genetics , Fructose-Bisphosphatase*/genetics, Animals ; Mice ; Fructose ; Mutation ; Ubiquitination ; Humans ; Male ; Child

المؤلفون: Gorce M; Centre de référence des maladies héréditaires du métabolisme, Unité pédiatrique de Gastro-entérologie, hépatologie, nutrition et Maladies héréditaires du métabolisme, CHU de Toulouse-Hôpital des Enfants, Toulouse, France., Lebigot E; APHP, CHU Bicêtre, Service de biochimie, Le Kremlin-Bicêtre, Paris, France., Arion A; Centre de compétence des maladies héréditaires du métabolisme, Service de pédiatrie médicale, CHU de Caen - Hôpital de la Côte de Nacre, Caen, France., Brassier A; Centre de référence des maladies héréditaires du métabolisme, Institut Imagine, Hôpital Necker, Université Paris-Descartes, Paris, France., Cano A; Centre de référence des maladies héréditaires du métabolisme, Service de neurologie pédiatrique, Pédiatrie spécialisée et médecine infantile, CHU de Marseille-Hôpital de la Timone, Marseille, France., De Lonlay P; Centre de référence des maladies héréditaires du métabolisme, Institut Imagine, Hôpital Necker, Université Paris-Descartes, Paris, France., Feillet F; Centre de référence des maladies héréditaires du métabolisme, Service de médecine infantile, CHU Brabois Enfants, Vandœuvre-lès-Nancy, France., Gay C; Centre de compétence des maladies héréditaires du métabolisme, Service de Pédiatrie, CHU de Saint-Etienne-Hôpital Nord, Saint Etienne, France., Labarthe F; Centre de référence des maladies héréditaires du métabolisme, Service de Médecine pédiatrique, Pediatrics Departement, CHRU de Tours-Hôpital Clocheville, Tours, France., Nassogne MC; Service de neurologie pédiatrique et Centre de référence des maladies métaboliques héréditaires-Cliniques Universitaires Saint-Luc, UCLouvain, Bruxelles, Belgium., Roche S; Centre de compétence des maladies héréditaires du métabolisme, Service de pédiatrie médicale, CHU Bordeaux, hôpital Pellegrin, Bordeaux, France., Roubertie A; Centre de compétence des maladies héréditaires du métabolisme, Département de neuropédiatrie, Pôle Femme Mère Enfant, CHRU de Montpellier-Hôpital Gui de Chauliac, Montpellier, France., Sacaze E; Centre de compétence des maladies héréditaires du métabolisme, Service de Pédiatrie, Pôle Femme-Mère-Enfant, CHRU de Brest-Hôpital Morvan, Brest, France., Touati G; Centre de référence des maladies héréditaires du métabolisme, Unité pédiatrique de Gastro-entérologie, hépatologie, nutrition et Maladies héréditaires du métabolisme, CHU de Toulouse-Hôpital des Enfants, Toulouse, France., Broué P; Centre de référence des maladies héréditaires du métabolisme, Unité pédiatrique de Gastro-entérologie, hépatologie, nutrition et Maladies héréditaires du métabolisme, CHU de Toulouse-Hôpital des Enfants, Toulouse, France.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 215-222. Date of Electronic Publication: 2021 Dec 01.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Fatty Liver* , Fructose-1,6-Diphosphatase Deficiency*/complications , Fructose-1,6-Diphosphatase Deficiency*/diagnosis , Hypoglycemia*/complications, Animals ; Follow-Up Studies ; Fructose ; Fructose-Bisphosphatase/metabolism ; Hepatomegaly ; Humans ; Liver/metabolism ; Mice ; Transaminases

المؤلفون: Emecen Sanli M; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Cengiz B; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Kilic A; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Ozsaydi E; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Inci A; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Okur I; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Tumer L; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey., Lebigot E; Bicêtre Hospital, AP-HP, Biochemistry Department, 94275 Le Kremlin-Bicêtre, France., Ezgu F; Department of Inborn Errors of Metabolism, Gazi University School of Medicine, Ankara, Turkey.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Feb 18; Vol. 35 (4), pp. 497-503. Date of Electronic Publication: 2022 Feb 18 (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: Fructose-1,6-Diphosphatase Deficiency*/diagnosis , Fructose-1,6-Diphosphatase Deficiency*/genetics , INDEL Mutation*, Fructose ; Fructose-Bisphosphatase/genetics ; Fructose-Bisphosphatase/metabolism ; Humans ; Mutation ; Retrospective Studies ; Turkey/epidemiology

المؤلفون: Cao J; Department of Critical Care Medicine, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China; Department of Pediatrics, Anhui Provincial Hospital, Hefei, China., Pan J; Department of Pediatrics, Anhui Provincial Hospital, Hefei, China. Electronic address: panjiahua1960@126.com.

المصدر: Pediatrics and neonatology [Pediatr Neonatol] 2022 Mar; Vol. 63 (2), pp. 204-205. Date of Electronic Publication: 2021 Oct 14.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Singapore NLM ID: 101484755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-1692 (Electronic) Linking ISSN: 18759572 NLM ISO Abbreviation: Pediatr Neonatol Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*, Child ; Fructose ; Humans ; Liver ; Mutation

المؤلفون: Yi C; Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China. xiejianxj92@126.com., Xie J; Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China.

المصدر: Endokrynologia Polska [Endokrynol Pol] 2022; Vol. 73 (5), pp. 911-912. Date of Electronic Publication: 2022 Aug 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Via Medica Country of Publication: Poland NLM ID: 0370674 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2299-8306 (Electronic) Linking ISSN: 0423104X NLM ISO Abbreviation: Endokrynol Pol Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*, Humans ; Fructose-Bisphosphatase/genetics ; Fructose ; Mutation

المؤلفون: Samprathi M; Department of Pediatrics, Rainbow Children's Hospital, Bannerghatta Road, Bangalore, 560076, India. madhu_1511@yahoo.com., Sridhar M; Department of Pediatrics, Rainbow Children's Hospital, Bannerghatta Road, Bangalore, 560076, India., Adiga R; Department of Pediatrics, Rainbow Children's Hospital, Bannerghatta Road, Bangalore, 560076, India., Vemgal P; Department of Pediatrics, Rainbow Children's Hospital, Bannerghatta Road, Bangalore, 560076, India.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2021 May; Vol. 88 (5), pp. 505. Date of Electronic Publication: 2021 Feb 12.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Fructose-1,6-Diphosphatase Deficiency*, Fructose ; Humans ; Liver ; Mutation