Search Results - "Trefz, F.K."

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries by Evers, R.A.F., van Wegberg, A.M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A.M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S.C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A.C., Rocha, J.C., Romani, C., Trefz, F.K., MacDonald, A., van Spronsen, F.J.

“…A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4…”
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The challenges of managing coexistent disorders with phenylketonuria: 30 cases by MacDonald, A., Ahring, K., Almeida, M.F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A.S., Kamieńska, E., Maillot, F., Lammardo, A.M., Muntau, A.C., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F.K., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.

“…The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The…”
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Propionazidämie und Schallempfindungsschwerhörigkeit: Gibt es eine molekulargenetische Basis? by Brosch, S., Rauffeisen, A., Baur, M., Michels, L., Trefz, F.K., Pfister, M.

“…Zusammenfassung Bisheriges Wissen zum Thema Der Propionazidämie liegt ein Gendefekt zugrunde, der über eine Störung des Enzyms Propionyl-CoA-Carboxylase (PCC)…”
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Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria by Trefz, F K, Belanger-Quintana, A

“…Phenylketonuria (PKU) is characterized by persistent hyperphenylalaninemia, due to mutations in the gene coding for phenylalanine hydroxylase (PAH). If…”
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Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome by Levy, H L, Waisbren, S E, Lobbregt, D, Allred, E, Schuler, A, Trefz, F K, Schweitzer, S M, Sardharwalla, I B, Walter, J H, Barwell, B E

“…Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine…”
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3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects by Gibson, K M, Bennett, M J, Mize, C E, Jakobs, C, Rotig, A, Munnich, A, Lichter-Konecki, U, Trefz, F K

“…3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis…”
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The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria by KONECKI, D. S, SCHLOTTER, M, TREFZ, F. K, LICHTER-KONECKI, U

“…DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in…”
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