Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Betina Fiege"'
Autor:
Marcello Giovannini, Nenad Blau, M. Demirkol, K. H. Gärtner, Beat Thöny, Marcel R. Zurflüh, Betina Fiege, I. Ozen, L. Fiori
The oral loading test with tetrahydrobiopterin (BH(4)) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH(4)-responsive patients. The outcome of the loading test depends on the genotype, dosage of BH(4), and BH(4) pha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9595e1c5143b1aaf714d7031502608b6
http://doc.rero.ch/record/317991/files/10545_2006_Article_425.pdf
http://doc.rero.ch/record/317991/files/10545_2006_Article_425.pdf
Autor:
Betina Fiege, Nenad Blau
Publikováno v:
The Journal of Pediatrics. 150:627-630
Objective To determine the prevalence of and identify subjects with phenylketonuria (PKU; phenylalanine hydroxylase deficiency) responsive to 6R-tetrahydrobiopterin (BH 4 ) and to establish selection criteria for potential treatment with BH 4 . Study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71a28a6e774d43bd2d29726c1b7f817
https://doi.org/10.1016/j.jpeds.2007.02.017
https://doi.org/10.1016/j.jpeds.2007.02.017
Autor:
Diana Ballhausen, Beat Thöny, Luisa Bonafé, David Meili, Nenad Blau, Betina Fiege, Matthias R. Baumgartner, Marcello Giovannini, L. Fiori
Publikováno v:
Molecular Genetics and Metabolism. 86:91-95
Patients with tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency may benefit from BH4 therapy instead or in addition to the low-phenylalanine diet. Different loading test protocols are currently used to detect these patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8478538c90986628ecf032d9575d9b0f
https://doi.org/10.1016/j.ymgme.2005.09.014
https://doi.org/10.1016/j.ymgme.2005.09.014
Autor:
Beat Thöny, Dimitri Goriounov, Walter Leimbacher, Diana Ballhausen, Bernhard Schircks, Nenad Blau, Betina Fiege, L. Kierat
Publikováno v:
Molecular Genetics and Metabolism. 81:45-51
Tetrahydrobiopterin (BH(4)) is widely used as a therapeutic agent in patients with BH(4) deficiencies and mild forms of phenylketonuria (PKU) and there is an increasing need for the measurement of its plasma concentrations in patients with cardiovasc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaf388f631fbe07d8bb13cf0f75635f
https://doi.org/10.1016/j.ymgme.2003.09.014
https://doi.org/10.1016/j.ymgme.2003.09.014
Autor:
Nenad Blau, L. Kierat, Yasemin Gokdemir, Marcello Giovannini, Marcel R. Zurflüh, Konrad H. Gärtner, Beat Thöny, Betina Fiege, T. Baykal, L. Fiori
Publikováno v:
Molecular genetics and metabolism. 86
Tetrahydrobiopterin (BH4) deficiency among newborns with hyperphenylalaninemia must be rapidly diagnosed and distinguished from classical phenylketonuria (PKU) to initiate immediately specific treatment and to prevent irreversible neurological damage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f0097bcca305eb9fe3b9f3dbd4e937
https://pubmed.ncbi.nlm.nih.gov/16275037
https://pubmed.ncbi.nlm.nih.gov/16275037
Publikováno v:
Molecular genetics and metabolism. 86
Background Hyperphenylalaninemia (HPA) is an inherited metabolic disorder due to deficiency of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH 4 ). BH 4 -responsiveness in PAH-deficient HPA is a recently described c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7747b8a17236298246f7f58f767862
https://pubmed.ncbi.nlm.nih.gov/16198137
https://pubmed.ncbi.nlm.nih.gov/16198137