Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results-Reference-Cited by-同舟云学术

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Published:2015-09-08 Issue:2 Volume:175 Page:261-272
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Giżewska Maria,MacDonald Anita,Bélanger-Quintana Amaya,Burlina Alberto,Cleary Maureen,Coşkun Turgay,Feillet François,Muntau Ania C.,Trefz Friedrich K.,van Spronsen Francjan J.,Blau Nenad

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-015-2622-5.pdf

Reference31 articles.

1. Blau N, Belanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F (2010) Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab 99:109–115

2. Blau N, Shen N, Carducci C (2014) Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn 14:655–671

3. Borrajo GJ (2007) Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis 30:466–481

4. Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF (2012) Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 35:613–625

5. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM (2014) Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab 112:87–122

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