Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Stoway SD"'
Autor:
Wegwerth PJ; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., White AL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Stoway SD; Department of Information Technology, Mayo Clinic, Rochester, Minnesota, USA., Loken PR; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Matern D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Tortorelli S; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Raymond KM; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Braverman NE; The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Gavrilov DK; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1159-1169. Date of Electronic Publication: 2023 Oct 31.
Autor:
Tangeraas T; Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; European Reference Network for Hereditary Metabolic Diseases (MetabERN)., Constante JR; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Backe PH; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Department of Microbiology, Clinic for Diagnostics and Intervention, Oslo University Hospital, Rikshospitalet, Nydalen, N-0424 Oslo, Norway., Oyarzábal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Neugebauer J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Weinhold N; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Boemer F; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Biochemical Genetics Laboratory, Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Debray FG; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Ozturk-Hism B; Department of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul 34854, Turkey., Evren G; Department of Medical Genetics, University of Harran, 63000 Sanliurfa, Turkey., Tuba EF; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Ummuhan O; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Footitt E; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Davison J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Martinez C; Department of Pediatrics and Psychiatry, The Mount Sinai Hospital, New York, NY 1468, USA., Bueno C; Department of Neurology, Clinical Hospital of the Faculty of Medicine, University of São Paulo, São Paulo 05403-010, Brazil., Machado I; Neuropediatric Department, Hospital Universitario Clínico San Cecilio, Granada 18016, Spain., Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Al-Sannaa N; Pediatric Services Division, Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia., De Los Santos M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Neurometabolic Unit, Department of Gastroenterology and Nutrition, Sant Joan de Déu Hospital, Barcelona 08950, Spain., López JM; Institut de Recerca Sant Joan de Déu, Pediatric Radiology Department Esplugues de Llobregat, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ozturkmen-Akay H; Department of Radiology, Baskent University School of Medicine, Ankara 06790, Turkey., Karaca M; Department of Pediatric Metabolic Diseases, University of Harran, Sanliurfa 63000, Turkey., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P.Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Pajares S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, Barcelona 08036, Spain., Ormazabal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55905, USA., Artuch R; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Dixon M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N, 3JH, UK., Mørkrid L; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Nydalen, Oslo 0424, Norway., García-Cazorla A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 3003-3013.
Autor:
Rowe AD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway., Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Åhlman H; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Solna, Sweden., Arora V; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Caggana M; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Fornari A; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.; Fondazione MBBM/Ospedale San Gerardo, University of Milano-Bicocca, 20900 Monza, Italy., Hagar A; Georgia Department of Public Health, Atlanta, GA 30303, USA., Hall PL; Georgia Department of Public Health, Atlanta, GA 30303, USA., Marquardt GC; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Miller BJ; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Nixon C; Virginia Department of General Services, Division of Consolidated Laboratory Services, Richmond, VA 23219, USA., Norgan AP; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Orsini JJ; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Pettersen RD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway., Piazza AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Schubauer NR; Division of Laboratory Pathology External Applications, Department of Information Technology, Mayo Clinic, Rochester, MN 55905, USA., Smith AC; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Tang H; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA., Tavakoli NP; Wadsworth Center, New York State Department of Health, Albany, NY 12237, USA., Wei S; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY 40601, USA., Zetterström RH; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Solna, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, 17177 Stockholm, Sweden., Currier RJ; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Mørkrid L; Department of Medical Biochemistry, Division of Laboratory Medicine, Oslo University Hospital HF, 0424 Oslo, Norway.; Department of Medical Biochemistry, Institute for Clinical Medicine, University of Oslo, 0130 Oslo, Norway., Rinaldo P; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2021 Apr 23; Vol. 7 (2). Date of Electronic Publication: 2021 Apr 23.
Autor:
Minter Baerg MM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Stoway SD; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hart J; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, Kentucky, USA.; Department of Pathology & Laboratory Medicine, University of Kentucky, Lexington, Kentucky, USA., Mott L; Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, Kentucky, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Nett SL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Eckerman JS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Lacey JM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Turgeon CT; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Mørkrid L; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Oslo, Norway., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. rinaldo@mayo.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Aug; Vol. 20 (8), pp. 847-854. Date of Electronic Publication: 2017 Nov 09.
Autor:
Hall PL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Marquardt G; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., McHugh DM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Currier RJ; California Department of Public Heath, Richmond, California, USA., Tang H; California Department of Public Heath, Richmond, California, USA., Stoway SD; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Rinaldo P; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2014 Dec; Vol. 16 (12), pp. 889-95. Date of Electronic Publication: 2014 May 29.