المؤلفون: Nair JM; Systems Genomics Laboratory, School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India., Bandesh K; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India. khushdeepbandesh@gmail.com.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India. khushdeepbandesh@gmail.com., Giri AK; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Prasad G; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Rajashekhar D; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Jha P; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Basu A; National Institute of Biomedical Genomics, Kalyani, West Bengal, 741251, India., Tandon N; Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, 110029, India., Bharadwaj D; Systems Genomics Laboratory, School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India. db@jnu.ac.in.

المصدر: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Sep 04; Vol. 299 (1), pp. 85. Date of Electronic Publication: 2024 Sep 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Quantitative Trait Loci* , Genome-Wide Association Study* , Blood Glucose*/metabolism , Carbohydrate Metabolism*/genetics , Polymorphism, Single Nucleotide*, Humans ; India/epidemiology ; Male ; Female ; Diabetes Mellitus, Type 2/genetics ; Adult ; Genetic Predisposition to Disease ; Middle Aged ; DNA Methylation/genetics ; Multiomics

المؤلفون: Mastrangelo M; Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy. mario.mastrangelo@uniroma1.it.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. mario.mastrangelo@uniroma1.it., Manti F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Ricciardi G; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cinnante EMC; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Cameli N; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Beatrice A; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Tolve M; Clinical Pathology Unit, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Rome, Italy., Pisani F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.

المصدر: European journal of pediatrics [Eur J Pediatr] 2024 Sep; Vol. 183 (9), pp. 3665-3678. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers*/cerebrospinal fluid , Biomarkers*/blood , Carbohydrate Metabolism, Inborn Errors*/diagnosis , Carbohydrate Metabolism, Inborn Errors*/cerebrospinal fluid, Humans ; Prognosis ; Child ; Lactic Acid/cerebrospinal fluid ; Lactic Acid/blood ; Blood Glucose/analysis ; Diet, Ketogenic ; Child, Preschool ; Glucose Transporter Type 1/genetics ; Glucose/cerebrospinal fluid ; Monosaccharide Transport Proteins/deficiency

SCR Disease Name: Glut1 Deficiency Syndrome

المؤلفون: Zhang H; School of Biological Engineering, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China., Mu R; Department of Clinical Medicine, The Fifth Clinical Institute, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China., Wang Z; School of Biological Engineering, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China., Peng S; School of Biological Engineering, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China., Yang XY; School of Biological Engineering, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China., Qin X; School of Biological Engineering, Zhuhai Campus of Zunyi Medical University, Guangdong 519041, China.

المصدر: Journal of proteome research [J Proteome Res] 2024 Aug 02; Vol. 23 (8), pp. 3682-3695. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101128775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3907 (Electronic) Linking ISSN: 15353893 NLM ISO Abbreviation: J Proteome Res Subsets: MEDLINE

مواضيع طبية MeSH: Streptococcus mutans*/drug effects , Streptococcus mutans*/genetics , Streptococcus mutans*/enzymology , Acrolein*/pharmacology , Acrolein*/analogs & derivatives , Acrolein*/metabolism , Carbohydrate Metabolism*/drug effects , Molecular Docking Simulation* , Pyruvate Dehydrogenase Complex*/metabolism , Pyruvate Dehydrogenase Complex*/antagonists & inhibitors, Anti-Bacterial Agents/pharmacology ; Glycolysis/drug effects ; Biofilms/drug effects ; Biofilms/growth & development ; Bacterial Proteins/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/antagonists & inhibitors ; Proteomics/methods ; Dental Caries/microbiology ; Citric Acid Cycle/drug effects ; Adenosine Triphosphate/metabolism

المؤلفون: Poli S; MR Methodology, Department for Diagnostic and Interventional Neuroradiology, University of Bern, Bern, Switzerland.; Translational Imaging Center (TIC), Swiss Institute for Translational and Entrepreneurial Medicine, Bern, Switzerland.; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland., Emara AF; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism UDEM, University Hospital Bern, Bern, Switzerland., Lange NF; Department of Visceral Surgery and Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Graduate School for Health Sciences, University of Bern, Bern, Switzerland., Ballabani E; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism UDEM, University Hospital Bern, Bern, Switzerland., Buser A; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism UDEM, University Hospital Bern, Bern, Switzerland., Schiavon M; Department of Information Engineering (DEI), University of Padova, Padua, Italy., Herzig D; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism UDEM, University Hospital Bern, Bern, Switzerland., Man CD; Department of Information Engineering (DEI), University of Padova, Padua, Italy., Bally L; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism UDEM, University Hospital Bern, Bern, Switzerland., Kreis R; MR Methodology, Department for Diagnostic and Interventional Neuroradiology, University of Bern, Bern, Switzerland.; Translational Imaging Center (TIC), Swiss Institute for Translational and Entrepreneurial Medicine, Bern, Switzerland.

المصدر: NMR in biomedicine [NMR Biomed] 2024 Aug; Vol. 37 (8), pp. e5123. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8915233 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-1492 (Electronic) Linking ISSN: 09523480 NLM ISO Abbreviation: NMR Biomed Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism* , Liver*/metabolism , Liver*/diagnostic imaging , Magnetic Resonance Spectroscopy*/methods , Carbohydrate Metabolism*, Humans ; Male ; Adult ; Female ; Glucose/metabolism

المؤلفون: Olivotto S; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Freddi A; University of Milan, Milan, Italy., Previtali R; University of Milan, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Mauri A; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milan, Italy., Cereda C; Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children's Hospital, Milan, Italy., De Amicis R; International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy; IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy., Bertoli S; International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy; IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy., Doneda C; Pediatric Radiology and Neuroradiology Unit, Buzzi Children's Hospital, Milan, Italy., Veggiotti P; Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy. Electronic address: pierangelo.veggiotti@unimi.it.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 118-126. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Carbohydrate Metabolism, Inborn Errors*/complications , Carbohydrate Metabolism, Inborn Errors*/diagnosis , Carbohydrate Metabolism, Inborn Errors*/physiopathology , Monosaccharide Transport Proteins*/deficiency , Monosaccharide Transport Proteins*/genetics , Stroke*/complications , Stroke*/diagnostic imaging, Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Young Adult ; Brain/diagnostic imaging ; Brain/pathology ; Electroencephalography ; Glucose Transporter Type 1/deficiency ; Glucose Transporter Type 1/genetics ; Magnetic Resonance Imaging ; Recurrence ; Retrospective Studies

SCR Disease Name: Glut1 Deficiency Syndrome

المؤلفون: Xu W; School of Biomedical Sciences, University of Queensland, St Lucia, Queensland, Australia., Borges K; School of Biomedical Sciences, University of Queensland, St Lucia, Queensland, Australia.

المصدر: Epilepsia [Epilepsia] 2024 Aug; Vol. 65 (8), pp. 2213-2226. Date of Electronic Publication: 2024 May 20.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Astrocytes*/metabolism , Carbohydrate Metabolism, Inborn Errors*/metabolism , Carbohydrate Metabolism, Inborn Errors*/genetics , Carbohydrate Metabolism, Inborn Errors*/diet therapy , Diet, Ketogenic* , Energy Metabolism*/physiology , Glucose Transporter Type 1*/metabolism , Glucose Transporter Type 1*/genetics, Humans ; Glucose/metabolism ; Animals ; Monosaccharide Transport Proteins/deficiency ; Monosaccharide Transport Proteins/metabolism ; Monosaccharide Transport Proteins/genetics

SCR Disease Name: Glut1 Deficiency Syndrome

المؤلفون: Huang HX; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.; Jiangxi Institute of Respiratory Disease, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Zhong PY; Department of Oncology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang, 330006, China., Li P; Jiangxi Institute of Respiratory Disease, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Peng SJ; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Ding XJ; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Cai XL; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Chen JH; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Zhu X; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Lu ZH; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Tao XY; Jiangxi Institute of Respiratory Disease, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China., Liu YY; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China. liuyyeyhl@163.com., Chen L; Department of Oncology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China. clmedic@126.com.

المصدر: Current medical science [Curr Med Sci] 2024 Aug; Vol. 44 (4), pp. 771-788. Date of Electronic Publication: 2024 Aug 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Huazhong University of Science and Technology Country of Publication: China NLM ID: 101729993 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2523-899X (Electronic) Linking ISSN: 2523899X NLM ISO Abbreviation: Curr Med Sci Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Hepatocellular*/genetics , Carcinoma, Hepatocellular*/immunology , Carcinoma, Hepatocellular*/pathology , Liver Neoplasms*/genetics , Liver Neoplasms*/immunology , Carbohydrate Metabolism*/genetics, Humans ; Prognosis ; Gene Expression Regulation, Neoplastic ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Male ; Female ; Middle Aged ; Gene Expression Profiling

المؤلفون: Malyarchuk BA; Institute of Biological Problems of the North, Far Eastern Branch of the Russian Academy of Sciences, Magadan, 685000, Russia. malyarchuk@ibpn.ru.

المصدر: Biochemistry. Biokhimiia [Biochemistry (Mosc)] 2024 Jul; Vol. 89 (7), pp. 1192-1201.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MAIK Nauka/Interperiodica Country of Publication: United States NLM ID: 0376536 Publication Model: Print Cited Medium: Internet ISSN: 1608-3040 (Electronic) Linking ISSN: 00062979 NLM ISO Abbreviation: Biochemistry (Mosc) Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism*/genetics , Carbohydrate Metabolism*/genetics, Humans ; Arctic Regions ; Delta-5 Fatty Acid Desaturase ; Fatty Acid Desaturases/genetics ; Fatty Acid Desaturases/metabolism ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/metabolism ; Carnitine O-Palmitoyltransferase/genetics ; Carnitine O-Palmitoyltransferase/metabolism ; Polymorphism, Genetic

المؤلفون: Corradini M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Zanaboni MP; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Varesio C; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. Electronic address: costanza.varesio@mondino.it., Celario M; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Capelli E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Giudice C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Headache Science and Neurorehabilitation Center, IRCCS Mondino Foundation, Pavia, Italy., Quaranta CA; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Mensi MM; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Pasca L; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., De Giorgis V; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jul; Vol. 51, pp. 62-70. Date of Electronic Publication: 2024 May 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Dysarthria*/etiology , Dysarthria*/genetics , Glucose Transporter Type 1*/genetics , Glucose Transporter Type 1*/deficiency , Carbohydrate Metabolism, Inborn Errors*/genetics , Carbohydrate Metabolism, Inborn Errors*/complications , Carbohydrate Metabolism, Inborn Errors*/diagnosis, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Monosaccharide Transport Proteins/deficiency ; Monosaccharide Transport Proteins/genetics ; Adult ; Young Adult

SCR Disease Name: Glut1 Deficiency Syndrome

المؤلفون: Dale HF; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.; Department of Clinical Support, Lovisenberg Diaconal Hospital, Oslo, Norway., Hagen M; Faculty of Health Science, Oslo Metropolitan University, Oslo, Norway.; Department of Research, Lovisenberg Diaconal Hospital, Oslo, Norway., Deb C; Gastroenterology Translational Research Division, Arnold Palmer Hospital, Specialty Diagnostic Laboratory, Orlando, USA., Skar V; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway., Valeur J; Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

المصدر: Scandinavian journal of clinical and laboratory investigation [Scand J Clin Lab Invest] 2024 Jul; Vol. 84 (4), pp. 268-272. Date of Electronic Publication: 2024 Jul 10.

نوع المنشور: Journal Article; Comparative Study

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0404375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7686 (Electronic) Linking ISSN: 00365513 NLM ISO Abbreviation: Scand J Clin Lab Invest Subsets: MEDLINE

مواضيع طبية MeSH: Breath Tests*/methods , Sucrase-Isomaltase Complex*/deficiency , Sucrase-Isomaltase Complex*/metabolism , Duodenum*/enzymology , Duodenum*/pathology , Carbohydrate Metabolism, Inborn Errors*/diagnosis , Carbohydrate Metabolism, Inborn Errors*/enzymology , Sucrose*/metabolism , Celiac Disease*/diagnosis , Celiac Disease*/enzymology, Humans ; Adult ; Male ; Female ; Middle Aged ; Carbon Isotopes ; Aged ; Biopsy ; Young Adult ; Enzyme Assays/methods ; Adolescent

SCR Disease Name: Sucrase-isomaltase deficiency, congenital