المؤلفون: Falah N; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Medicine, Johns Hopkins All Children's Hospital, St. Petersburg, Florida, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Sasannejad C; Duke Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA., Gibson A; Division of Critical Care, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA., Lee YL; Department of Medicine and Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63637. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Psychotic Disorders*/genetics , Psychotic Disorders*/pathology , Maple Syrup Urine Disease*/genetics , Maple Syrup Urine Disease*/complications, Humans ; Female ; Adult ; Fatal Outcome ; Leucine/blood

المؤلفون: Vasudevan AK; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Shanmugam N; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Rammohan A; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Balakrishnan U; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Menon J; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Iqbal MAUH; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Mohammed GMO; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Kaliamoorthy I; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Rela M; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India.

المصدر: Pediatric transplantation [Pediatr Transplant] 2024 Sep; Vol. 28 (6), pp. e14845.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/surgery , Liver Transplantation* , Amino Acids*/metabolism , Homeostasis*, Humans ; Male ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Follow-Up Studies ; Child Development

المؤلفون: Mengler K; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Garbade SF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Gleich F; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital., May P; Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Medical Faculty of Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Lüsebrink N; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Marquardt T; Department of Pediatrics, University Hospital Muenster, Muenster, Germany., Hübner V; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, University of Ulm, Ulm, Germany., Neugebauer J; Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Gillitzer C; Children's Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Kamrath C; Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany., Näke A; Children's Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Murko S; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Schmidt S; Clinic for Internal Medicine III, Endocrinology and Metabolic Diseases, University Hospital Jena., Schnabel E; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Lommer-Steinhoff S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Hoffmann GF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Beime J; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Kölker S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Mütze U; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

المصدر: Pediatrics [Pediatrics] 2024 Aug 01; Vol. 154 (2).

نوع المنشور: Journal Article; Multicenter Study; Observational Study

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/diagnosis , Maple Syrup Urine Disease*/therapy , Neonatal Screening*/methods, Humans ; Infant, Newborn ; Male ; Female ; Prospective Studies ; Child ; Treatment Outcome ; Child, Preschool ; Leucine/blood ; Adolescent ; Infant

المؤلفون: DeChristopher LR; Independent Researcher and Guest Researcher, University of Massachusetts Lowell, Lowell, MA, USA. luanne.dechristopher@gmail.com., Tucker KL; Department of Biomedical and Nutritional Sciences and Center for Population Health, University of Massachusetts Lowell, Lowell, MA, USA.

المصدر: Nutrition journal [Nutr J] 2024 Jul 29; Vol. 23 (1), pp. 84. Date of Electronic Publication: 2024 Jul 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101152213 Publication Model: Electronic Cited Medium: Internet ISSN: 1475-2891 (Electronic) Linking ISSN: 14752891 NLM ISO Abbreviation: Nutr J Subsets: MEDLINE

مواضيع طبية MeSH: Cardiovascular Diseases*/epidemiology , High Fructose Corn Syrup*/adverse effects , Black or African American*/statistics & numerical data, Humans ; Male ; Adult ; Female ; Incidence ; Young Adult ; United States/epidemiology ; Adolescent ; Sugar-Sweetened Beverages/adverse effects ; Sugar-Sweetened Beverages/statistics & numerical data ; Risk Factors ; Fructose/adverse effects ; Fructose/administration & dosage ; Sweetening Agents/adverse effects

المؤلفون: Cardona-Herrera R; Posgrado en Biociencias, División de Ciencias de la Vida, Campus Irapuato-Salamanca, Universidad de Guanajuato, Irapuato, Guanajuato 36500, Mexico., Quiñones-Muñoz TA; Consejo Nacional de Humanidades, Ciencias y Tecnologías (CONAHCYT)-Centro de Investigación y Asistencia en Tecnología y Diseño del Estado de Jalisco (CIATEJ), Camino Arenero 1227, El Bajío, Zapopan, Jalisco 45019, Mexico., Franco-Robles E; Posgrado en Biociencias, División de Ciencias de la Vida, Campus Irapuato-Salamanca, Universidad de Guanajuato, Irapuato, Guanajuato 36500, Mexico; Departamento de Veterinaria y Zootecnia, División de Ciencias de la Vida, Campus Irapuato-Salamanca, Universidad de Guanajuato, Irapuato, Guanajuato 36500, Mexico., Ozuna C; Posgrado en Biociencias, División de Ciencias de la Vida, Campus Irapuato-Salamanca, Universidad de Guanajuato, Irapuato, Guanajuato 36500, Mexico; Departamento de Alimentos, División de Ciencias de la Vida, Campus Irapuato-Salamanca, Universidad de Guanajuato, Irapuato, Guanajuato 36500, Mexico. Electronic address: cesar.ozuna@ugto.mx.

المصدر: Food chemistry [Food Chem] 2024 Jul 30; Vol. 447, pp. 138935. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Applied Science Publishers Country of Publication: England NLM ID: 7702639 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7072 (Electronic) Linking ISSN: 03088146 NLM ISO Abbreviation: Food Chem Subsets: MEDLINE

مواضيع طبية MeSH: Agave*/metabolism , Tamarindus* , High Fructose Corn Syrup*, Mice ; Animals ; Mice, Inbred C57BL ; Glucose/metabolism ; Beverages ; Sweetening Agents/metabolism ; Fructose/metabolism

المؤلفون: Bulbul SN; Department of Biology, Science Faculty, Gazi University, Ankara, Turkey., Mamur S; Department of Environmental Sciences, Graduate School of Natural and Applied Sciences, Gazi University, Ankara, Turkey., Yuzbasioglu D; Department of Biology, Science Faculty, Gazi University, Ankara, Turkey., Unal F; Department of Biology, Science Faculty, Gazi University, Ankara, Turkey.

المصدر: Toxicology mechanisms and methods [Toxicol Mech Methods] 2024 Jun; Vol. 34 (5), pp. 584-595. Date of Electronic Publication: 2024 Feb 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101134521 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6524 (Electronic) Linking ISSN: 15376516 NLM ISO Abbreviation: Toxicol Mech Methods Subsets: MEDLINE

مواضيع طبية MeSH: Sweetening Agents*/toxicity , High Fructose Corn Syrup*/toxicity , High Fructose Corn Syrup*/adverse effects , Fructose*/toxicity , Cell Survival*/drug effects , Comet Assay*, Humans ; Hep G2 Cells ; DNA Damage/drug effects ; Sister Chromatid Exchange/drug effects ; Lymphocytes/drug effects ; Lymphocytes/pathology ; Chromosome Aberrations/chemically induced ; Micronucleus Tests ; Dose-Response Relationship, Drug ; Mutagens/toxicity ; Male ; Risk Assessment

المؤلفون: Alotaibi AZ; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11652, Saudi Arabia., AlMalki RH; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Al Mogren M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Sebaa R; Department of Medical Laboratories, College of Applied Medical Sciences, Shaqra University, Shaqra 11961, Saudi Arabia., Alanazi M; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11652, Saudi Arabia., Jacob M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Alodaib A; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Alfares A; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 24; Vol. 25 (11). Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/blood , Maple Syrup Urine Disease*/diagnosis , Dried Blood Spot Testing*/methods , Biomarkers*/blood , Metabolomics*/methods , Neonatal Screening*/methods, Humans ; Infant, Newborn ; Male ; Female ; Metabolome ; Tandem Mass Spectrometry

المؤلفون: Hidaka M; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan., Oshima Y; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan., Hanai Y; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan., Kataoka H; Oncopathology and Regenerative Biology Section, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Hattori H; Department of Biochemistry and Applied Biosciences, Faculty of Agriculture, University of Miyazaki, Miyazaki, Japan; h-hattori@cc.miyazakiu.ac.jp.

المصدر: In vivo (Athens, Greece) [In Vivo] 2024 May-Jun; Vol. 38 (3), pp. 1152-1161.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 8806809 Publication Model: Print Cited Medium: Internet ISSN: 1791-7549 (Electronic) Linking ISSN: 0258851X NLM ISO Abbreviation: In Vivo Subsets: MEDLINE

مواضيع طبية MeSH: High Fructose Corn Syrup*/adverse effects , High Fructose Corn Syrup*/administration & dosage , Blood Glucose* , Glucose Tolerance Test*, Animals ; Mice ; Male ; Diabetes Mellitus, Type 2/chemically induced ; Diabetes Mellitus, Type 2/etiology ; Diabetes Mellitus, Type 2/metabolism ; Energy Intake ; Disease Models, Animal ; Insulin/blood ; Body Weight/drug effects ; Insulin Resistance ; Obesity/etiology ; Obesity/metabolism ; Obesity/chemically induced

المؤلفون: Saeyup P; Department of Anesthesiology, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Tubjaroen C; Division of Gastroenterology and Hepatology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Organ Transplantation, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Kamolvisit W; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center of Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Chongsrisawat V; Division of Gastroenterology and Hepatology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Organ Transplantation, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Thaveepunsan W; Department of Anesthesiology, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

المصدر: Paediatric anaesthesia [Paediatr Anaesth] 2024 Apr; Vol. 34 (4), pp. 366-370. Date of Electronic Publication: 2024 Feb 05.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Arnette-Blackwell Country of Publication: France NLM ID: 9206575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-9592 (Electronic) Linking ISSN: 11555645 NLM ISO Abbreviation: Paediatr Anaesth Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/metabolism , Maple Syrup Urine Disease*/surgery , Liver Transplantation*, Infant ; Child ; Humans ; Female ; Amino Acids, Branched-Chain/metabolism ; Living Donors

المؤلفون: Hassona Y; Oral Medicine and Special Care Dentistry Faculty of Dentistry, Centre for Oral Diseases Studies (CODS), Al-Ahliyya Amman University, Amman, Jordan. y.hassona@ammanu.edu.jo.; School of Dentistry, The University of Jordan, Amman, Jordan. y.hassona@ammanu.edu.jo., Alqaisi D; School of Dentistry, The University of Jordan, Amman, Jordan., Flaifl Y; School of Dentistry, The University of Jordan, Amman, Jordan., Alkilani A; School of Medicine, The University of Jordan, Amman, Jordan.

المصدر: BMC oral health [BMC Oral Health] 2024 Mar 21; Vol. 24 (1), pp. 362. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Systematic Review; Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health

مواضيع طبية MeSH: Maple Syrup Urine Disease*/complications , Maple Syrup Urine Disease*/diet therapy , Maple Syrup Urine Disease*/therapy , Phenotype*, Humans ; Male ; Child, Preschool ; Dental Caries/therapy ; Dental Caries/complications ; Gingivitis/therapy ; Gingivitis/etiology