Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
Trefz, K F, Muntau, A C, Kohlscheen, K M, Altevers, J, Jacob, C, Braun, S, Greiner, W, Jha, A, Jain, M, Alvarez, I, Lane, P, Schröder, C, Rutsch, F
Published in Orphanet journal of rare diseases (22.07.2019)
Published in Orphanet journal of rare diseases (22.07.2019)
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Journal Article
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria
Trefz, F. K, Scheible, D, Götz, H, Frauendienst-Egger, G
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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Journal Article
Conference Proceeding
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
Haas, D, Garbade, S. F, Vohwinkel, C, Muschol, N, Trefz, F. K, Penzien, J. M, Zschocke, J, Hoffmann, G. F, Burgard, P
Published in Journal of inherited metabolic disease (01.06.2007)
Published in Journal of inherited metabolic disease (01.06.2007)
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Journal Article
Outcome of tyrosinaemia type III
Ellaway, C. J., Holme, E., Standing, S., Preece, M. A., Green, A., Ploechl, E., Ugarte, M., Trefz, F. K., Leonard, J. V.
Published in Journal of inherited metabolic disease (01.12.2001)
Published in Journal of inherited metabolic disease (01.12.2001)
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Journal Article
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
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.
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene
Seidel, J., Streck, S., Bellstedt, K., Vianey‐Saban, C., Pedersen, C. B., Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, K. F., Sewell, A. C., Kauf, K., Zintl, F., Lehnert, W., Gregersen, N.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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Journal Article
Glutaric aciduria type III: A distinctive non‐disease?
Knerr, I., Zschocke, J., Trautmann, U., Dorland, L., Koning, T. J., Müller, P., Christensen, E., Trefz, F. K., Wündisch, G. F., Rascher, W., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.11.2002)
Published in Journal of inherited metabolic disease (01.11.2002)
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Journal Article
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
Hoffmann, G F, Charpentier, C, Mayatepek, E, Mancini, J, Leichsenring, M, Gibson, K M, Divry, P, Hrebicek, M, Lehnert, W, Sartor, K
Published in Pediatrics (Evanston) (01.05.1993)
Published in Pediatrics (Evanston) (01.05.1993)
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Journal Article
The challenges of managing coexistent disorders with phenylketonuria: 30 cases
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.
Published in Molecular genetics and metabolism (01.12.2015)
Published in Molecular genetics and metabolism (01.12.2015)
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Journal Article
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis
MATERN, D, STRAUSS, A. W, HILLMAN, S. L, MAYATEPEK, E, MILLINGTON, D. S, TREFZ, F.-K
Published in Pediatric research (01.07.1999)
Published in Pediatric research (01.07.1999)
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Journal Article
Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria
Okano, Yoshiyuki, Eisensmith, Randy C, Güttler, Flemming, Lichter-Konecki, Uta, Konecki, David S, Trefz, Friedrich K, Dasovich, Mary, Wang, Tao, Henriksen, Karen, Lou, Hans, Woo, Savio L.C
Published in The New England journal of medicine (02.05.1991)
Published in The New England journal of medicine (02.05.1991)
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Journal Article
CblC/D defect combined with haemodynamically highly relevant VSD
TOMASKE, M, BOSK, A, HEINEMANN, M. K, SIEVERDING, L, BAUMGARTNER, E. R, FOWLER, B, TREFZ, F. K
Published in Journal of inherited metabolic disease (01.08.2001)
Published in Journal of inherited metabolic disease (01.08.2001)
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Journal Article
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
Stanley, C A, DeLeeuw, S, Coates, P M, Vianey-Liaud, C, Divry, P, Bonnefont, J P, Saudubray, J M, Haymond, M, Trefz, F K, Breningstall, G N
Published in Annals of neurology (01.11.1991)
Published in Annals of neurology (01.11.1991)
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Journal Article
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy
Hoffmann, G F, Trefz, F K, Barth, P G, Böhles, H J, Biggemann, B, Bremer, H J, Christensen, E, Frosch, M, Hanefeld, F, Hunneman, D H
Published in Pediatrics (Evanston) (01.12.1991)
Published in Pediatrics (Evanston) (01.12.1991)
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Journal Article
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
Barth, P G, Hoffmann, G F, Jaeken, J, Lehnert, W, Hanefeld, F, van Gennip, A H, Duran, M, Valk, J, Schutgens, R B, Trefz, F K
Published in Annals of neurology (01.07.1992)
Published in Annals of neurology (01.07.1992)
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Journal Article
Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life
Pöge, AP, Autschbach, F., Korall, H., Trefz, FK, Mayatepek, E.
Published in Acta Paediatrica (01.10.1997)
Published in Acta Paediatrica (01.10.1997)
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Journal Article
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects
Gibson, K.M., Bennett, M.J., Mize, C.E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., Trefz, F.K.
Published in The Journal of pediatrics (01.12.1992)
Published in The Journal of pediatrics (01.12.1992)
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