Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Autor: Annemiek M.J. van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, François Maillot, Francjan J. van Spronsen, K. Ahring, F. Al Mutairi, J.B. Arnoux, D. Ballhausen, J. Baruteau, L. Bernstein, S. Bijarnia-Mahay, F. Boemer, A. Bordugo, L. Brodosi, S. Brooks, H.B. Chew, K. Chyz, M. Coker, C. Collingwood, V. Cornejo, M.L. Couce, A. Cozens, S. Dahri, A.M. Das, C. de Laet, J. de las Heras Montero, A. de Vreugd, F.G. Debray, M. Dercksen, M. Descartes, L. Diogo, E. Drogari, H. Eiroa, F.T. Eminoglu, G.M. Enns, F. Eyskens, F. Feillet, S. Ford, L. Franzson, P. Freisinger, P. Garcia, O. Grafakou, G. Gramer, S. Gray, U. Groselj, S.C. Grünert, D. Haas, B. Handoom, T.B. Harte, C. Hendriksz, R.S. Heredia, J. Hertecant, T. Hoi-Yee Wu, A. Inwood, S.S. Jamuar, P. Jesina, J.J. Jonsson, A. Jovanovic, I. Kern, S. Kilavuz, I. Knerr, D. Kor, D. Korycinska-Chaaban, M. Kreile, B. Kumru, B. Lanpher, R. Lapatto, C. Lavigne, E. Leao-Teles, V. Leuzzi, N. Longo, A. Lopez-Uriarte, C.M.A. Lubout, A. MacDonald, E.M. Megdad, J. Mitchell, F. Mochel, P.J. Moreno-Lozano, A. Morris, C.F. Moura de Souza, T. Munoz, P.I. Nevalainen, M. Oscarson, K. Õunap, S. Paci, G.M. Pastores, P.L. Pearl, F.B. Piazzon, J. Pitt, G. Poon, F. Porta, N. Presner, A.A. Rabaty, K. Reinson, P. Reismann, T. Rink, J.C. Rocha, E. Rodrigues, A.G. Saini, A. Sanchez-Valle, J. Sander, P. Sarkhail, I.V.D. Schwartz, R. Sharma, B. Sheng, K. Siriwardena, S. Sirrs, D.R. Sjarif, N. Sondheimer, R. Sparkes, N. Specola, K.M. Stepien, I. Szatmari, M. Tchan, T. Tkemaladze, C. Tran, M.G. Valle, M. Vela-Amieva, M.L. Verdaguer, S.A. Vergano, P. Vermeersch, R. Vulturar, M.A.E.M. Wagenmakers, N. Weinhold, A.B. Williams, W.G. Wilson, D. Zafeiriou, H. Zhang, A. Ziagaki, J. Zolkowska

Publikováno v: Journal of Pediatrics, 239, 231-234.e2
Journal of Pediatrics, 239, pp. 231-234.e2
Journal of Pediatrics, 239, 231-+. MOSBY-ELSEVIER

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7348c15ff180e1571446dba681221c93
http://hdl.handle.net/2066/244721

Liquorice-induced rise in blood pressure: a linear dose-response relationship

Autor: Karin Manhem, J Ragnarsson, G Sigurdsson, Helga Agusta Sigurjonsdottir, L Franzson, Sven Wallerstedt

Publikováno v: Journal of Human Hypertension. 15:549-552

To clarify the dose-response and the time-response relationship between liquorice consumption and rise in blood pressure and explore the inter-individual variance this intervention study was designed and executed in research laboratories at Universit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::864d8df6b5732dec441a319ca4d5ac58
https://doi.org/10.1038/sj.jhh.1001215

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Autor: McHugh, D.M.S. Cameron, C.A. Abdenur, J.E. Abdulrahman, M. Adair, O. Al Nuaimi, S.A. Åhlman, H. Allen, J.J. Antonozzi, I. Archer, S. Au, S. Auray-Blais, C. Baker, M. Bamforth, F. Beckmann, K. Pino, G.B. Berberich, S.L. Binard, R. Boemer, F. Bonham, J. Breen, N.N. Bryant, S.C. Caggana, M. Caldwell, S.G. Camilot, M. Campbell, C. Carducci, C. Cariappa, R. Carlisle, C. Caruso, U. Cassanello, M. Castilla, A.M. Ramos, D.E.C. Chakraborty, P. Chandrasekar, R. Ramos, A.C. Cheillan, D. Chien, Y.-H. Childs, T.A. Chrastina, P. Sica, Y.C. Cocho De Juan, J.A. Colandre, M.E. Espinoza, V.C. Corso, G. Currier, R. Cyr, D. Czuczy, N. D'Apolito, O. Davis, T. De Sain-Van Der Velden, M.G. Pecellin, C.D. Di Gangi, I.M. Di Stefano, C.M. Dotsikas, Y. Downing, M. Downs, S.M. Dy, B. Dymerski, M. Rueda, I. Elvers, B. Eaton, R. Eckerd, B.M. El Mougy, F. Eroh, S. Espada, M. Evans, C. Fawbush, S. Fijolek, K.F. Fisher, L. Franzson, L. Frazier, D.M. Garcia, L.R.C. Bermejo, M.S.G.-V. Gavrilov, D. Gerace, R. Giordano, G. Irazabal, Y.G. Greed, L.C. Grier, R. Grycki, E. Gu, X. Gulamali-Majid, F. Hagar, A.F. Han, L. Hannon, W.H. Haslip, C. Hassan, F.A. He, M. Hietala, A. Himstedt, L. Hoffman, G.L. Hoffman, W. Hoggatt, P. Hopkins, P.V. Hougaard, D.M. Hughes, K. Hunt, P.R. Hwu, W.-L. Hynes, J. Ibarra-González, I. Ingham, C.A. Ivanova, M. Jacox, W.B. John, C. Johnson, J.P. Jónsson, J.J. Karg, E. Kasper, D. Klopper, B. Katakouzinos, D. Khneisser, I. Knoll, D. Kobayashi, H. Koneski, R. Kožich, V. Kouapei, R. Kohlmueller, D. Kremensky, I. La Marca, G. Lavochkin, M. Lee, S.-Y. Lehotay, D.C. Lemes, A. Lepage, J. Lesko, B. Lewis, B. Lim, C. Linard, S. Lindner, M. Lloyd-Puryear, M.A. Lorey, F. Loukas, Y.L. Luedtke, J. Maffitt, N. Magee, J.F. Manning, A. Manos, S. Marie, S. Hadachi, S.M. Marquardt, G. Martin, S.J. Matern, D. Gibson, S.K.M. Mayne, P. McCallister, T.D. McCann, M. McClure, J. McGill, J.J. McKeever, C.D. McNeilly, B. Morrissey, M.A. Moutsatsou, P. Mulcahy, E.A. Nikoloudis, D. Norgaard-Pedersen, B. Oglesbee, D. Oltarzewski, M. Ombrone, D. Ojodu, J. Papakonstantinou, V. Reoyo, S.P. Park, H.-D. Pasquali, M. Pasquini, E. Patel, P. Pass, K.A. Peterson, C. Pettersen, R.D. Pitt, J.J. Poh, S. Pollak, A. Porter, C. Poston, P.A. Price, R.W. Queijo, C. Quesada, J. Randell, E. Ranieri, E. Raymond, K. Reddic, J.E. Reuben, A. Ricciardi, C. Rinaldo, P. Rivera, J.D. Roberts, A. Rocha, H. Roche, G. Greenberg, C.R. Mellado, J.M.E. Juan-Fita, M.J. Ruiz, C. Ruoppolo, M. Rutledge, S.L. Ryu, E. Saban, C. Sahai, I. García-Blanco, M.I.S. Santiago-Borrero, P. Schenone, A. Schoos, R. Schweitzer, B. Scott, P. Seashore, M.R. Seeterlin, M.A. Sesser, D.E. Sevier, D.W. Shone, S.M. Sinclair, G. Skrinska, V.A. Stanley, E.L. Strovel, E.T. Jones, A.L.S. Sunny, S. Takats, Z. Tanyalcin, T. Teofoli, F. Thompson, J.R. Tomashitis, K. Domingos, M.T. Torres, J. Torres, R. Tortorelli, S. Turi, S. Turner, K. Tzanakos, N. Valiente, A.G. Vallance, H. Vela-Amieva, M. Vilarinho, L. Von Döbeln, U. Vincent, M.-F. Vorster, B.C. Watson, M.S. Webster, D. Weiss, S. Wilcken, B. Wiley, V. Williams, S.K. Willis, S.A. Woontner, M. Wright, K. Yahyaoui, R. Yamaguchi, S. Yssel, M. Zakowicz, W.M.

PURPOSE:: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS:: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approxima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::29e755f91d29f355c62941d20d4e89bc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3111660

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[Vitamin D intake and serum 25-OH-vitamin D concentration in different age groups of Icelandic women.]

Autor: G, Sigurdsson, L, Franzson, H, Thorgeirsdottir, L, Steingrimsdottir

Publikováno v: Laeknabladid. 85(5)

The aim of this study was to evaluate the vitamin D intake and serum concentrations of 25-OH-vitamin D (25-OH-D) in different age groups of Icelandic women. The seasonal variation of 25-OH-D and its relationship with parathyroid hormone (PTH) level w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d9bc6a2716c059b3911a48f818b76881
https://pubmed.ncbi.nlm.nih.gov/19439801