Zobrazeno 1 - 10
of 7 545
pro vyhledávání: '"aciduria"'
Autor:
Gurung S; Great Ormond Street Institute of Child Health, University College London, London, UK., Karamched S; Centre for Advanced Biomedical Imaging, University College London, London, UK., Perocheau D; Great Ormond Street Institute of Child Health, University College London, London, UK., Seunarine KK; Great Ormond Street Institute of Child Health, University College London, London, UK., Baldwin T; Great Ormond Street Institute of Child Health, University College London, London, UK., Alrashidi H; Great Ormond Street Institute of Child Health, University College London, London, UK., Touramanidou L; Great Ormond Street Institute of Child Health, University College London, London, UK., Duff C; Great Ormond Street Institute of Child Health, University College London, London, UK., Elkhateeb N; Great Ormond Street Hospital for Children NHS Trust, London, UK.; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK., Stepien KM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK., Sharma R; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK., Morris A; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Hartley T; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Crowther L; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Grunewald S; Great Ormond Street Hospital for Children NHS Trust, London, UK., Cleary M; Great Ormond Street Hospital for Children NHS Trust, London, UK., Mundy H; Evelina London Children's Hospital, St Thomas's Hospital, London, UK., Chakrapani A; Great Ormond Street Hospital for Children NHS Trust, London, UK., Batzios S; Great Ormond Street Hospital for Children NHS Trust, London, UK., Davison J; Great Ormond Street Hospital for Children NHS Trust, London, UK., Footitt E; Great Ormond Street Hospital for Children NHS Trust, London, UK., Tuschl K; Great Ormond Street Hospital for Children NHS Trust, London, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Santra S; Clinical IMD, Birmingham Children's Hospital, Birmingham, UK., Uudelepp ML; Great Ormond Street Hospital for Children NHS Trust, London, UK., Yeo M; Great Ormond Street Hospital for Children NHS Trust, London, UK., Finn PF; Moderna, Inc., Cambridge, Massachusetts, USA., Cavedon A; Moderna, Inc., Cambridge, Massachusetts, USA., Siddiqui S; Moderna, Inc., Cambridge, Massachusetts, USA., Rice L; Moderna, Inc., Cambridge, Massachusetts, USA., Martini PGV; Moderna, Inc., Cambridge, Massachusetts, USA., Frassetto A; Moderna, Inc., Cambridge, Massachusetts, USA., Heales S; Great Ormond Street Institute of Child Health, University College London, London, UK., Mills PB; Great Ormond Street Institute of Child Health, University College London, London, UK., Gissen P; Great Ormond Street Institute of Child Health, University College London, London, UK.; Great Ormond Street Hospital for Children NHS Trust, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK., Clayden JD; Great Ormond Street Institute of Child Health, University College London, London, UK., Clark CA; Great Ormond Street Institute of Child Health, University College London, London, UK., Eaton S; Great Ormond Street Institute of Child Health, University College London, London, UK., Kalber TL; Centre for Advanced Biomedical Imaging, University College London, London, UK., Baruteau J; Great Ormond Street Institute of Child Health, University College London, London, UK.; Great Ormond Street Hospital for Children NHS Trust, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1213-1227. Date of Electronic Publication: 2023 Dec 04.
Autor:
Jalil S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keskinen T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Juutila J; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Sartori Maldonado R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Euro L; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Suomalainen A; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Lapatto R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kuuluvainen E; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Hietakangas V; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Otonkoski T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Hyvönen ME; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland. Electronic address: kirmo.wartiovaara@helsinki.fi.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 714-728.
Autor:
Duff C; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address: claire.duff@ucl.ac.uk., Islam M; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Gagliano O; Onyel Biotech S.r.l., Padova, PD, Italy; Department of Industrial Engineering, University of Padova, Padova, Italy; Veneto Institute of Molecular Medicine, Padova, Italy., Pramod H; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK., Rashidi H; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Kurian MA; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK., Gissen P; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Baruteau J; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK; National Institute of Health Research, Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103365. Date of Electronic Publication: 2024 Feb 28.
Autor:
Gurung S; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Timmermand OV; School of Biomedical Engineering and Imaging Sciences, King's College London, London SE1 7EH, UK., Perocheau D; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Gil-Martinez AL; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Minnion M; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.; Southampton NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK., Touramanidou L; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Fang S; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Messina M; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Khalil Y; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Spiewak J; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Barber AR; School of Biomedical Engineering and Imaging Sciences, King's College London, London SE1 7EH, UK., Edwards RS; School of Biomedical Engineering and Imaging Sciences, King's College London, London SE1 7EH, UK., Pinto PL; Santa Maria's Hospital, Lisbon North University Hospital Center, 1649-028 Lisbon, Portugal., Finn PF; Moderna Inc., Cambridge, MA 02139, USA., Cavedon A; Moderna Inc., Cambridge, MA 02139, USA., Siddiqui S; Moderna Inc., Cambridge, MA 02139, USA., Rice L; Moderna Inc., Cambridge, MA 02139, USA., Martini PGV; Moderna Inc., Cambridge, MA 02139, USA., Ridout D; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Heywood W; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Hargreaves I; Pharmacy and Biomolecular Sciences, Liverpool John Moore University, Liverpool L3 5UG, UK., Heales S; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Mills PB; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Waddington SN; EGA Institute for Women's Health, University College London, London WC1E 6HX, UK.; Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of Witswatersrand, Braamfontein, 2000 Johannesburg, South Africa., Gissen P; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK., Eaton S; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Ryten M; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Feelisch M; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.; Southampton NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK., Frassetto A; Moderna Inc., Cambridge, MA 02139, USA., Witney TH; School of Biomedical Engineering and Imaging Sciences, King's College London, London SE1 7EH, UK., Baruteau J; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London WC1N 1EH, UK.
Publikováno v:
Science translational medicine [Sci Transl Med] 2024 Jan 10; Vol. 16 (729), pp. eadh1334. Date of Electronic Publication: 2024 Jan 10.
Autor:
Heng TYJ; Department of Paediatrics, KK Women's and Children's Hospital., Ow JR; Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR)., Koh AL; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School., Lim JSC; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital., Ong CBK; Department of Nutrition and Dietetics, KK Women's and Children's Hospital., Goh JCY; Division of Nursing - Nursing Clinical Services, KK Women's and Children's Hospital., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital., Chiou FK; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School.; Gastroenterology, Hepatology & Nutrition Service, Department of Paediatrics, KK Women's and Children's Hospital., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Duke-NUS Medical School.; SingHealth Duke-NUS Institute of Precision Medicine, National Heart Centre Singapore, Republic of Singapore.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Jan 01; Vol. 33 (1), pp. 43-49. Date of Electronic Publication: 2023 Oct 13.
Autor:
Öztürk F; Department of Dermatology, Division of Metabolism, Bursa Uludag University Faculty of Medicine, Bursa, Nilüfer, Bursa, Turkey., Ünlü CI; Department of Dermatology, Division of Metabolism, Bursa Uludag University Faculty of Medicine, Bursa, Nilüfer, Bursa, Turkey., Sarıcaoğlu H; Department of Dermatology, Division of Metabolism, Bursa Uludag University Faculty of Medicine, Bursa, Nilüfer, Bursa, Turkey., Aydoğan K; Department of Dermatology, Division of Metabolism, Bursa Uludag University Faculty of Medicine, Bursa, Nilüfer, Bursa, Turkey., Erdöl Ş; Department of Pediatrics, Division of Metabolism, Bursa Uludag University Faculty of Medicine, Bursa, Nilüfer, Bursa, Turkey.
Publikováno v:
Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2023 Nov-Dec; Vol. 89 (6), pp. 927.
Autor:
Kho J; Department of Molecular and Human Genetics and., Polak U; Department of Molecular and Human Genetics and., Jiang MM; Department of Molecular and Human Genetics and., Odom JD; Department of Molecular and Human Genetics and., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Ali SM; Department of Molecular and Human Genetics and., Burrage LC; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA., Nagamani SC; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA., Pautler RG; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA., Thompson HP; Department of Neurology, University of Texas Health Science Center, Houston, Texas, USA., Urayama A; Department of Neurology, University of Texas Health Science Center, Houston, Texas, USA., Jin Z; Department of Molecular and Human Genetics and., Lee B; Department of Molecular and Human Genetics and.; Texas Children's Hospital, Houston, Texas, USA.
Publikováno v:
JCI insight [JCI Insight] 2023 Sep 08; Vol. 8 (17). Date of Electronic Publication: 2023 Sep 08.
Autor:
Elkhateeb N; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK., Olivieri G; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Siri B; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Boyd S; Department of Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK., Stepien KM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK., Sharma R; Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases Department, Salford Royal NHS Foundation Trust, Salford, UK., Morris AAM; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Hartley T; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Crowther L; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Grunewald S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.; University College London Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK., Cleary M; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK., Mundy H; Evelina London Children's Hospital, St Thomas's Hospital, London, UK., Chakrapani A; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Santra S; Department of Paediatric Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK., Uudelepp ML; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK., Yeo M; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK., Bernhardt I; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK., Sudakhar S; Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK., Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Mills P; University College London Great Ormond Street Institute of Child Health, London, UK., Ridout D; Willink Unit, Manchester Centre for Genomic Medicine, Manchester, UK., Gissen P; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.; University College London Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Baruteau J; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Trust, London, UK.; University College London Great Ormond Street Institute of Child Health, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK.
Publikováno v:
Epilepsia [Epilepsia] 2023 Jun; Vol. 64 (6), pp. 1612-1626. Date of Electronic Publication: 2023 Apr 10.
Autor:
Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Matthias.Zielonka@med.uni-heidelberg.de., Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC, USA., Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Ramdhouni N; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Göde L; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Roland.Posset@med.uni-heidelberg.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108566. Date of Electronic Publication: 2024 Aug 19.
Autor:
Nagayoshi Y; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan; Department of Cardiovascular Medicine, Graduate School of Medical Science, Kumamoto University, Kumamoto City, Japan. Electronic address: ynagayos@kumamoto-u.ac.jp., Nakayama M; Nakayama Cardiovascular Clinic, Amakusa City, Japan., Nagano H; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan., Morikawa K; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan., Nishi M; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan., Nishihara T; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan., Sakaino N; Department of Cardiology, Amakusa Medical Center, Amakusa City, Japan., Kawano H; Department of Cardiovascular Medicine, Graduate School of Medical Science, Kumamoto University, Kumamoto City, Japan., Tsujita K; Department of Cardiovascular Medicine, Graduate School of Medical Science, Kumamoto University, Kumamoto City, Japan., Mitsubuchi H; Department of Pediatrics, Graduate School of Medical Science, Kumamoto University, Kumamoto City, Japan; Division of Neonatology, Kumamoto University Hospital, Kumamoto City, Japan.
Publikováno v:
The American journal of cardiology [Am J Cardiol] 2023 Apr 01; Vol. 192, pp. 155-159. Date of Electronic Publication: 2023 Feb 18.