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Om Kennedy Centret Organisation Medarbejdere Ledige stillinger Årsrapport m.m. Ventetider Her bor vi Kontakt Om kennedy.dk Links English - Limited version Laboratory analyses Laboratory pricelist Laboratory profile Exclusion of liability Research profile PKU, Fragile X and Rett syndrome Center for Fragilt X Center for PKU Center for Rett syndrom Forskning Synshandicap Øjenmalformationer og øjenudvikling Aniridi USHER syndrom Oculocutaneous albinism (OCA) AMD (aldersrelateret makuladegeneration) Autosomal dominant opticus atrofi Glaukom Mental retardering Gilles de Tourette Syndrom (GTS) Kromosomale ubalancer Fragilt X Down syndrom Kobberstofskiftet Menkes sygdom Funktionelle studier af ATP7A proteinet Udvikling af nye behandlingsmuligheder Epigenetik Maternel hypomethyleringssyndrom Aldersrelateret ændring i X-kromosom reaktivering PKU og beslægtede tilstande Phenylketonuri (PKU) Co-faktor BH4 og smerteforskning Familiær Dopa-responsiv dystoni Nyt fra forskningen Publikationer 2014 2013 2012 2011 2010 2009 2008 2007 2006 Tidligere publikationer Links Genetisk rådgivning Information Arvelig cancer rådgivning Sjældne kromosomafvigelser Lokationsnummer Priser Links - Genetisk rådgivning Laboratoriet English Nye analysetilbud Rekvisitioner Priser Vejledninger og downloads Kvalitetspolitik Synsregisteret Øjenklinikken Rekvisitioner Selvbetjening Links Privatlivspolitik

Sidst opdateret: 16/11 2017
PKU forskning publikationer
Kontakt: Lisbeth Birk Møller

147. 

Belanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Macdonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Ahring K.
Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers.
Mol Genet Metab. 2012 Mar;105(3):390-4. doi: 10.1016/j.ymgme.2011.12.004. Epub 2011 Dec 13.

146. 

Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Júlio César Rocha, van Rijn M, Ahring K, Bélanger-Quintana A, Macdonald A.
Optimising growth in phenylketonuria: Current state of the clinical evidence base.
Clinical Nutrition. 2012 Feb;31(1):16-21. Epub 2011 Sep 29.

145. 

Zschocke J, Haverkamp T, Møller LB.
Clinical utility gene card for: Phenylketonuria.
Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14.
No abstract available.

144. 

MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Bélanger-Quintana B.
Adjusting diet with sapropterin in phenylketonuria: what factors should
be considered?
British Journal of Nutrition 2011 Jul;106(2):175-82.

143.

Nielsen JB, Nielsen KE, Güttler F. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J Inherit Metab Dis (2010) 33:9–16

142.

Birk Moller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Guttler F, Tyfield L, Zschocke J. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat 2007 Feb;28(2):207.

141.

Hvas AM, Nexo E, Nielsen JB. Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU). J Inherit Metab Dis 2006 Feb;29(1):47-53.2)

140.

Matalon R, Koch R, Michals-Matalon K, Moseley K, Surendran S, Tyring S, Erlandsen H, Gamez A, Stevens RC, Romstad A, Møller LB, Güttler F. Biopterin responsive phenylalanine hydroxylase deficiency. Genet. Med. 6: 1 (27-32) 2004

139.

Koch R, Moseley KD, Moats R, Yano S, Matalon R, Güttler F. Danger of high-protein dietary supplements to persons with hyperphenylalaninemia. J. Inherit. Metab. Dis. 26 (339-42) 2003

138.

Koch R, Hanley W, Levy H, Matalon K, Matalon R, Rouse B, Trefz F, Güttler F, Azen C, Platt L, Waisbren S, Widaman K, Ning J, Friedman EG, de la Cruz F. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112 (1523-29) 2003

137.

Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz F, de la Cruz F, Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 112 (1548-52) 2003
136. Güttler F, Azen C, Guldberg P, Romstad A, Hanley WB, levy HL, Matalon R, Rouse BM, Trefz F, de la Cruz F, Koch R. Impact of the Phenylalanine Hydroxylase Gene on Maternal Phenylketonuria Outcome. Pediatrics 112  (1530-33) 2003
135. Romstad A, Dupont E, Krag-Olsen B, Østergaard K, Guldberg P, Güttler F. Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family. Arch Neurol 60 (618-622) 2003
134. Koch R, Burton B, Wolff J, Scott R, Trahms C, Frazier D, Moats R, Thomas J, Fruehauf C, Azen CG, Nelson M, Güttler F. Brain phenylalanine content associated with high intellectual ability in adults with Phenylketonuria. Pediatrics 2003 (submitted)
133. Güttler F., Guldberg P. Phenylketonuria, in Encyclopedia of the Human Genome. Genes and Disease, Cooper DN & Antonarakis S (eds.). Nature publ. group 4 (568-572) 2003
132. Güttler F (ed.). Phenylketonuria – Present knowledge and future challenges. J. Inherit. Metab. Dis. 25 (605-627) 2002
131. Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, Scott R, Wolff J, Güttler F, Nelseon M, de la Cruz F, Coldwell J, Erbe R, Geraghty MT, Shear C, Thomas J, Azen C. Phenylketonuria in adulthood: A collaborative study. J . Inherit. Metab. Dis. 25 (333-346) 2002
130. Christensen R, Güttler F, Jensen TG. Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria. Mol. Genet. Metab. 76 (313-318) 2002
129. Koch R, Güttler F, Blau N. Mental illness in mild PKU responds to biopterin. Mol. Genet. Metab. 75 (284-286) 2002
128. Gjetting T, Romstad A, Haavik J, Knappskog PM, Acosta AX, Silva Jr. WA, Zago MA, Guldberg P, Güttler F. A Phenylalanine Hydroxysase Amino Acid Polymorphism with Implications for Molecular Diagnostics. Molecular Genetics and Metabolism 73 (280-284) 2001
 

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