Zobrazeno 1 - 10
of 4 049
pro vyhledávání: '"maple syrup urine disease"'
Autor:
Tresbach RH; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Sperb-Ludwig F; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: fsperb@hcpa.edu.br., Ligabue-Braun R; Graduate Program in Biological Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Pharmacosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Bitencourt FH; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Tonon T; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Souza CFM; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Poswar FO; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Leite MEQ; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Amorim T; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Porta G; Pedro de Alcântara Children's Institute - Hospital das Clínicas, Medical School, Universidade de São Paulo (USP), São Paulo, SP, Brazil., Seda Neto J; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Miura IK; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Steiner CE; Department of Translational Medicine, School of Medical Sciences, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil., Martins AM; Reference Center for Inborn Errors of Metabolism, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Department of Pediatrics, Universidade Estadual do Ceará (UECE), Fortaleza, CE, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., Schwartz IVD; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; InRaras, National Institute of Rare Diseases, Brazil.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108569. Date of Electronic Publication: 2024 Aug 29.
Autor:
Greig JA; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jennis M; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Dandekar A; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Chorazeczewski JK; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Param N; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., So M; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Nayal M; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bell P; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Coughlan K; Moderna, Inc., Cambridge, Massachusetts, USA., Choi M; Moderna, Inc., Cambridge, Massachusetts, USA., Giangrande PH; Moderna, Inc., Cambridge, Massachusetts, USA., Martini PGV; Moderna, Inc., Cambridge, Massachusetts, USA., Wilson JM; Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2024 Sep; Vol. 35 (17-18), pp. 726-733. Date of Electronic Publication: 2024 Aug 05.
Autor:
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.
Publikováno v:
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.
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Autor:
Abdelkhalek ZS; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo University Children's Hospital, Monira, 11628, Cairo, Egypt. zeinab.abdelkhalek@kasralainy.edu.eg., Hussein SM; Central laboratories, Cairo University Hospitals, Cairo University, Cairo, Egypt., Mahmoud IG; Pediatric Neurology Department, Metabolic Division, Faculty of Medicine, Cairo University Children's Hospital, Cairo, Egypt., Ramadan A; Pediatric Neurology Department, Metabolic Division, Faculty of Medicine, Cairo University Children's Hospital, Cairo, Egypt., Kamel MA; Pediatric Neurology Department, Metabolic Division, Faculty of Medicine, Cairo University Children's Hospital, Cairo, Egypt., Girgis MY; Pediatric Neurology Department, Metabolic Division, Faculty of Medicine, Cairo University Children's Hospital, Cairo, Egypt., Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo University Children's Hospital, Monira, 11628, Cairo, Egypt.
Publikováno v:
Scientific reports [Sci Rep] 2024 Nov 18; Vol. 14 (1), pp. 28391. Date of Electronic Publication: 2024 Nov 18.
Autor:
Lakkhana P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Tim-Aroon T; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. thipwimol.tim@mahidol.ac.th., Khongkraparn A; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Noojarern S; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Wongkittichote P; Division of Epidemiology and Translational Research, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Wichajarn K; Division of Medical Genetics, Department of Pediatrics, Srinagarind Hospital, Khon Kaen, Thailand., Kuptanon C; Division of Medical Genetics, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand., Boonyawat B; Division of Medical Genetics, Department of Pediatrics, Phramongkutklao Hospital, Bangkok, Thailand., Suphapeetiporn K; Department of Pediatrics, Faculty of Medicine, Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Chulalongkorn University, Bangkok, Thailand., Wejaphikul K; Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand., Seo G; Division of Medical Genetics, 3Billion Inc., Seoul, South Korea., Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 25; Vol. 19 (1), pp. 396. Date of Electronic Publication: 2024 Oct 25.
Autor:
Pretese R; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Bonfanti C; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Faraguna MC; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.; Residency in Pediatrics, University of Milano Bicocca, 20126 Milano, Italy., Fantasia M; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.; Residency in Pediatrics, University of Milano Bicocca, 20126 Milano, Italy., Crescitelli V; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Barzaghi S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Botti M; Rare Disease Centre, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Mezzanotti G; Deparment of Biology Applied to Nutrition Sciences, University of Milano Statale, 20122 Milano, Italy., Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.
Publikováno v:
Nutrients [Nutrients] 2024 Sep 18; Vol. 16 (18). Date of Electronic Publication: 2024 Sep 18.
Autor:
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.
Publikováno v:
Pediatric transplantation [Pediatr Transplant] 2024 Sep; Vol. 28 (6), pp. e14845.
Autor:
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.
Publikováno v:
Pediatrics [Pediatrics] 2024 Aug 01; Vol. 154 (2).
Autor:
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.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 May 24; Vol. 25 (11). Date of Electronic Publication: 2024 May 24.
Autor:
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.
Publikováno v:
Paediatric anaesthesia [Paediatr Anaesth] 2024 Apr; Vol. 34 (4), pp. 366-370. Date of Electronic Publication: 2024 Feb 05.