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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
Familiær Dopa-responsiv dystoni publikationer
Kontakt: Lisbeth Birk Møller

7.

Van Hove JLK, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R , Romstad A, Møller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. Journal of Neurology, J Neurol Neurosurg Psychiatry 77:18-23 (2006)

6.

Roze E, Vidailhet M, Blau N, Møller LB, Doumma D, de Villemeu TB, Roubergue A. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Mov Disord 21:263-6, (2006)

5.

Hertz JM,  Østergaard K, Juncker I, Pedersen S, Romstad A, Møller LB, Güttler F, Dupont E. Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson’s Disease. European Journal of Neurology 13:385-390, (2005)

4.

Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Güttler F, Artuch R.  Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. Prenatal Diagn 25: 671-675 (2005)

3.

Diepold K, Schütz B, Rostasy K, Wilken B, Hougaard P, Güttler F, Romstad A, Møller LB. L-dopa responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. Movement Disorder 20: 764-767 (2005)

2.

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: 27-32 (2004)

1.

Cerone R, Schiffinno MC, Fantasia AR, Perfumo M, Møller LB, Blau N: Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. Molecular Genetics and Metabolism 81:137-139 (2004)

 

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