Zobrazeno 1 - 10
of 1 329
pro vyhledávání: '"Franzson, L."'
Autor:
Agnarsdóttir D; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland., Sigurjónsdóttir VK; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland., Emilsdóttir AR; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland., Petersen E; Department of Nutrition, Landspitali University Hospital, Reykjavik, Iceland., Sigfússon G; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland., Rögnvaldsson I; Hringurinn, Childrens Hospital, Landspitali University Hospital, Reykjavik, Iceland., Franzson L; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland., Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Bjornsson HT; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1971. Date of Electronic Publication: 2022 Jun 16.
Autor:
López García de Lomana A; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Vilhjálmsson AI; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., McGarrity S; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Sigurðardóttir R; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Anuforo Ó; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Viktorsdóttir AR; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Kotronoulas A; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Bergmann A; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland., Franzson L; Landspítali-Háskólasjúkrahús, 101 Reykjavík, Iceland., Halldórsson H; Medical Department, University of Iceland, 102 Reykjavík, Iceland., Henriksen HH; Center for Endotheliomics CAG, Rigshospitalet, 2200 Copenhagen, Denmark., Wade CE; Center for Translational Injury Research, The University of Texas Health Science Center, Houston, TX 77030, USA., Johansson PI; Center for Endotheliomics CAG, Rigshospitalet, 2200 Copenhagen, Denmark., Rolfsson Ó; Center for Systems Biology, University of Iceland, 101 Reykjavík, Iceland.; Landspítali-Háskólasjúkrahús, 101 Reykjavík, Iceland.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Mar 15; Vol. 23 (6). Date of Electronic Publication: 2022 Mar 15.
Autor:
Mchugh, Dm, Cameron, Ca, Abdenur, Je, Abdulrahman, M., Adair, O., Al Nuaimi SA, Åhlman, H., Allen, Jj, Antonozzi, I., Archer, S., Au, S., Auray Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, Gb, Berberich, Sl, Binard, R., Boemer, F., Bonham, J., Breen, Nn, Bryant, Sc, Caggana, M., Caldwell, Sg, Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, Am, Ramos, De, Chakraborty, P., Chandrasekar, R., Ramos, Ac, Cheillan, D., Chien, Yh, Childs, Ta, Chrastina, P., Sica, Yc, de Juan JA, Colandre, Me, Espinoza, Vc, Corso, G., Currier, R., Cyr, D., Czuczy, N., D Apolito, O., Davis, T., de Sain Van der Velden MG, Delgado Pecellin, C., Di Gangi IM, Di Stefano CM, Dotsikas, Y., Downing, M., Downs, Sm, Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, Bm, El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, Kf, Fisher, L., Franzson, L., Frazier, Dm, Garcia, Lr, Bermejo, Ms, Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Yg, Greed, Lc, Grier, R., Grycki, E., Gu, X., Gulamali Majid, F., Hagar, Af, Han, L., Hannon, Wh, Haslip, C., Hassan, Fa, He, M., Hietala, A., Himstedt, L., Hoffman, Gl, Hoffman, W., Hoggatt, P., Hopkins, Pv, Hougaard, Dm, Hughes, K., Hunt, Pr, Hwu, Wl, Hynes, J., Ibarra González, I., Ingham, Ca, Ivanova, M., Jacox, Wb, John, C., Johnson, Jp, Jónsson, Jj, Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kozich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., giancarlo la marca, Lavochkin, M., Lee, Sy, Lehotay, Dc, Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd Puryear MA, Lorey, F., Loukas, Yl, Luedtke, J., Maffitt, N., Magee, Jf, Manning, A., Manos, S., Marie, S., Hadachi, Sm, Marquardt, G., Martin, Sj, Matern, D., Mayfield Gibson SK, Mayne, P., Mccallister, Td, Mccann, M., Mcclure, J., Mcgill, Jj, Mckeever, Cd, Mcneilly, B., Morrissey, Ma, Moutsatsou, P., Mulcahy, Ea, Nikoloudis, D., Norgaard Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, Sp, Park, Hd, Pasquali, M., Pasquini, E., Patel, P., Pass, Ka, Peterson, C., Pettersen, Rd, Pitt, Jj, Poh, S., Pollak, A., Porter, C., Poston, Pa, Price, Rw, Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, Je, Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, Jd, Roberts, A., Rocha, H., Roche, G., Greenberg, Cr, Mellado, Jm, Juan Fita MJ, Ruiz, C., Ruoppolo, M., Rutledge, Sl, Ryu, E., Saban, C., Sahai, I., García Blanco MI, Santiago Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, Mr, Seeterlin, Ma, Sesser, De, Sevier, Dw, Shone, Sm, Sinclair, G., Skrinska, Va, Stanley, El, Strovel, Et, Jones, Al, Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, Jr, Tomashitis, K., Domingos, Mt, Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, Ag, Vallance, H., Vela Amieva, M., Vilarinho, L., Döbeln, U., Vincent, Mf, Vorster, Bc, Watson, Ms, Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, Sk, Willis, Sa, Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M., Zakowicz, W. M.
Publikováno v:
Università degli studi di Firenze-IRIS
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass 215 spectrometry through a worldwide collaboration. Methods: Cumulative percentiles of amino 216 acids and acylcarnitines in dried blood spots of approximat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f51a1f93234bd350ae0017a00e62525
https://doi.org/10.1097/gim.0b013e31820d5e67
https://doi.org/10.1097/gim.0b013e31820d5e67
Autor:
Vidarsdottir H; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Department of Neonatology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Halldorsson TI; Faculty for Food Science and Nutrition, School of Health Science, University of Iceland, Reykjavik, Iceland., Geirsson RT; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Women's Clinic, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland., Bjarnason R; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Children's Hospital Iceland, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland., Franzson L; Faculty of Pharmaceutical Sciences, School of Health Science, University of Iceland, Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland., Valdimarsdottir UA; Center for Public Health Science, School of Health Science, University of Iceland, Reykjavik, Iceland.; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.; Department of Epidemiology, Harvard T H Chan School of Public Health, Boston, MA, USA., Thorkelsson T; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Children's Hospital Iceland, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2021 Jul; Vol. 110 (7), pp. 2110-2118. Date of Electronic Publication: 2021 Mar 15.
Publikováno v:
Journal of Human Hypertension. Aug2001, Vol. 15 Issue 8, p549. 4p.
Autor:
Sala, P Ruiz, Ruijter, G, Acquaviva, C, Chabli, A, de Sain-van der Velden, M G M, Garcia-Villoria, J, Heiner-Fokkema, M R, Jeannesson-Thivisol, E, Leckstrom, K, Franzson, L, Lynes, G, Olesen, J, Onkenhout, W, Petrou, P, Drousiotou, A, Ribes, A, Vianey-Saban, C, Merinero, B, Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena
Publikováno v:
JIMD Rep
JIMD Rep, 2016, 30, pp.23-31. ⟨10.1007/8904_2016_533⟩
JIMD Reports, 30, 23. Springer Berlin
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JIMD Reports
JIMD Reports-JIMD Reports, Volume 30
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlands
JIMD Reports ISBN: 9783662536803
Europe PubMed Central
JIMD Reports, 23-31
STARTPAGE=23;ENDPAGE=31;TITLE=JIMD Reports
JIMD Rep, 2016, 30, pp.23-31. ⟨10.1007/8904_2016_533⟩
JIMD Reports, 30, 23. Springer Berlin
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JIMD Reports
JIMD Reports-JIMD Reports, Volume 30
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlands
JIMD Reports ISBN: 9783662536803
Europe PubMed Central
JIMD Reports, 23-31
STARTPAGE=23;ENDPAGE=31;TITLE=JIMD Reports
International audience; The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assuranc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646920aece4495efe628b819ca2afc6d
https://hal.archives-ouvertes.fr/hal-01850349
https://hal.archives-ouvertes.fr/hal-01850349
Autor:
Vidarsdottir H; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Astrid Lindgren Children´s Hospital, Karolinska University Hospital, Stockholm, Sweden., Thorkelsson T; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland., Halldorsson TI; Faculty for Food Science and Nutrition, School of Health Science, University of Iceland, Reykjavik, Iceland., Bjarnason R; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland., Geirsson RT; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Women's Clinic, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Franzson L; Faculty of Pharmaceutical Sciences, School of Health Science, Univeristy of Iceland, Reykjavik, Iceland. leifurfr@landspitali.is.; Department of Genetics and Molecular Medicine, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland. leifurfr@landspitali.is.
Publikováno v:
Pediatric research [Pediatr Res] 2021 Apr; Vol. 89 (5), pp. 1144-1151. Date of Electronic Publication: 2020 Jun 29.
Autor:
Loeber JG; International Society for Neonatal Screening (ISNS) Office, 3721CK Bilthoven, The Netherlands., Platis D; Department of Newborn Screening, Institute of Child Health, 11527 Athens, Greece., Zetterström RH; Centre for Inherited Metabolic Diseases, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institute, SE-17 76 Stockholm, Sweden., Almashanu S; Newborn Screening Laboratories, Tel-HaShomer, 52621 Ramat Gan, Israel., Boemer F; CHU-Domaine du Sart Tilman, 4000 Liège, Belgium., Bonham JR; Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK., Borde P; Laboratoire National de Santé, 3555 Dudelange, Luxembourg., Brincat I; Mater Dei Hospital, Tal-Qroqq Msida, MSD2090 Msida, Malta., Cheillan D; Groupement Hospitalier Est, 69500 Bron, France., Dekkers E; Centre for Population Research, National Institue for Public Health and the Environment (RIVM), 3720BA Bilthoven, The Netherlands., Dimitrov D; National Genetic Laboratory, Hospital Maichin Dom, 1431 Sofia, Bulgaria., Fingerhut R; Neonatal Screening Laboratory, Children's Hospital, CH-8032 Zürich, Switzerland., Franzson L; Department Genetics & Molecular Medicine, Landspitali, Reykjavik 108, Iceland., Groselj U; University Children's Hospital, 1000 Ljubljana, Slovenia., Hougaard D; Staten Serum Institute, 2300 Copenhagen, Denmark., Knapkova M; Newborn Screening Centre, Banska Bystrica 97401, Slovakia., Kocova M; Medical Faculty, 1000 Skopje, North Macedonia., Kotori V; University Clinical Centre, Pristina 10000, Kosovo., Kozich V; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague 12808, Czech Republic., Kremezna A; Clinical and Diagnostic Center 'Pharmbiotest', LLC 93000 Rubizhne, Ukraine., Kurkijärvi R; Newborn Screening Centre, Turku University Hospital, 20521 Turku, Finland., La Marca G; Meyer Hospital, 50139 Florence, Italy., Mikelsaar R; Medical Faculty, University of Tartu, 50411 Tart, Estonia., Milenkovic T; Mother and Child Health Care Institute of Serbia, Belgrade 11070, Serbia., Mitkin V; Neonatal Screening Center, 115580 Moscow, Russia., Moldovanu F; National Institute for Mother and Child Health, 050474 Bucharest, Romania., Ceglarek U; University Clinic, 04103 Leipzig, Germany., O'Grady L; Newborn Blood Spot Screening Laboratory, Dublin 1, Ireland., Oltarzewski M; Institute of Mother and Child, 01-211 Warsaw, Poland., Pettersen RD; Norwegian National Unit for Newborn Screening, 0424 Oslo, Norway., Ramadza D; University Hospital Medical Centre Zagreb, 10000 Zagreb, Croatia., Salimbayeva D; Republican Scientific Centre for Gynaecology and Perinatology, Almaty 050020, Kazakhstan., Samardzic M; Institute for Sick Children, 81000 Podgorica, Montenegro., Shamsiddinova M; Republican Center Mother and Child Screening, Tashkent 100164, Uzbekistan., Songailiené J; Centre for Medical Genetics, 08661 Vilnius, Lithuania., Szatmari I; Children's Clinic, 1083 Budapest, Hungary., Tabatadze N; NeugoGenetic and Metabolic Center, Tbilisi 0194, Georgia., Tezel B; Child and Adolescent Health Department, 06430 Ankara, Turkey., Toromanovic A; Department of Pediatrics, University Clinical Centre, Tuzla 75000, Bosnia and Herzegovina., Tovmasyan I; Arbes Health Care Centre, Yerevan 0014, Armenia., Usurelu N; National Centre Health and Reproductive & Medical Genetics, 2062 Chisinau, Moldova., Vevere P; Children's University Hospital, 1004 Riga, Latvia., Vilarinho L; National Institute of Health, 4000-055 Porto, Portugal., Vogazianos M; Center for Preventive Paediatrics, 3022 Limassol, Cyprus., Yahyaoui R; Málaga Regional University Hospital. Institute of Biomedical Research IBIMA, 29011 Málaga, Spain., Zeyda M; Department of Pediatrics and Adolescent Medicine, 1090 Vienna, Austria., Schielen PCJI; International Society for Neonatal Screening (ISNS) Office, 3721CK Bilthoven, The Netherlands.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2021 Mar 05; Vol. 7 (1). Date of Electronic Publication: 2021 Mar 05.
Autor:
Gudlaugsdottir BL; Unit for Nutrition Research, University of Iceland, Department of Clinical Nutrition, Landspitali - The National University Hospital of Iceland., Engilbertsdottir S; Department of Clinical Nutrition, Landspitali - The National University Hospital of Iceland., Franzson L; Department of Genetics and Molecular Medicine, Landspítali - The National University Hospital of Iceland, Faculty of Pharmaceutical Sciences, University of Iceland., Gislason H; Surgical Services - The National University Hospital of Iceland., Gunnarsdottir I; Department of Clinical Nutrition, Landspitali - The National University Hospital of Iceland, Faculty of food science and nutrition, University of Iceland.
Publikováno v:
Laeknabladid [Laeknabladid] 2021 Mar; Vol. 107 (3), pp. 137-143.
Autor:
Alves, Sara1 (AUTHOR), Silva, Francisca2 (AUTHOR) fqueirog@gmail.com, Esteves, Filipa3,4 (AUTHOR) filipa.esteves3@hotmail.com, Costa, Solange3,4 (AUTHOR) solange.costa2@gmail.com, Slezakova, Klara5 (AUTHOR) klaras@fe.up.pt, Alves, Maria6,7 (AUTHOR) josiana@ipb.pt, Pereira, Maria8 (AUTHOR), Teixeira, João3,4 (AUTHOR) jpft12@gmail.com, Morais, Simone5 (AUTHOR) sbm@isep.ipp.pt, Fernandes, Adília9 (AUTHOR) adilia@ipb.pt, Queiroga, Felisbina2 (AUTHOR), Vaz, Josiana7,9,10 (AUTHOR)
Publikováno v:
Clocks & Sleep. Sep2024, Vol. 6 Issue 3, p291-311. 21p.