Trefz, Friedrich K. Prof. Dr. med.Universität HeidelbergHeidelberg
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Publications in heiBIB 
- Saffari, Afshin: Identification of biochemical determinants for diagnosis and prediction of severity in 5q spinal muscular atrophy using 1H-nuclear magnetic resonance metabolic profiling in patient-derived biofluids / Afshin Saffari, Moritz Niesert, Claire Cannet, Astrid Blaschek, Andreas Hahn, Jessika Johannsen, Mus… , 12 November 2024. - 19 S. : Illustrationen
In: International journal of molecular sciences, ISSN 1422-0067. 25(2024), 22, Artikel-ID 12123, Seite 1-19
DOI: 10.3390/ijms252212123
- Trefz, Friedrich K.: Does hyperphenylalaninemia induce brain glucose hypometabolism? : Cerebral spinal fluid findings in treated adult phenylketonuric patients / Friedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, Claire Cannet, Brigitte Schmidt-Mader, Dor… , 23 March 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 1 vom: Mai, Artikel-ID 108464, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108464
- Feillet, François: Efficacy and safety of sapropterin before and during pregnancy : final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries / François Feillet, Can Ficicioglu, Florian B. Lagler, Nicola Longo, Ania C. Muntau, Alberto Burlina, … , July 2024. - 15 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 636-650
DOI: 10.1002/jimd.12724
- Giżewska, Maria: Caring for Ukrainian refugee children with acute and chronic diseases / Maria Giżewska, Annemiek M J van Wegberg, François Maillot, Friedrich Trefz, Francjan J van Spronsen, April 11, 2022. - 1 S.
In: The lancet, ISSN 1474-547X. 399(2022), 10336, Seite 1689
DOI: 10.1016/S0140-6736(22)00578-5
- Wegberg, Annemiek M. J. van: Undiagnosed phenylketonuria can exist everywhere : results from an international survey / Annemiek M.J. van Wegberg, MSc, Friedrich Trefz, MD, Maria Gizewska, MD, PhD, Sibtain Ahmed, MBBS, F… , 30 August 2021. - 6 S.
In: The journal of pediatrics, ISSN 1097-6833. 239(2021) Seite 231-234, e1-e2, 6 Seiten
DOI: 10.1016/j.jpeds.2021.08.070
- Saffari, Afshin: 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy / Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, … , 20 October 2021. - 16 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 441, Seite 1-16
DOI: 10.1186/s13023-021-02075-x
- Haas, Dorothea: Differences of phenylalanine concentrations in dried blood spots and in plasma : erythrocytes as a neglected component for this observation / Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg… , 3 October 2021. - 10 S.
In: Metabolites, ISSN 2218-1989. 11(2021), 10, Artikel-ID 680, Seite 1-10
DOI: 10.3390/metabo11100680
- Pilotto, Andrea: Phenylalanine effects on brain function in adult Phenylketonuria / Andrea Pilotto, MD, Carl M. Zipser, MD, Edytha Leks, MD, Dorothea Haas, MD, Gwendolyn Gramer, MD, Pe… , 2021. - 13 S.
In: Neurology, ISSN 1526-632X. 96(2021), 3, Seite e399-e411
DOI: 10.1212/WNL.0000000000011088
- Evers, Roeland A. F.: Defining tetrahydrobiopterin responsiveness in phenylketonuria : survey results from 38 countries / R.A.F. Evers, A.M.J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A.M. Bosch, A. Burlina,… , 4 February 2021. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 132(2021), 4, Seite 215-219
DOI: 10.1016/j.ymgme.2021.01.013
- Wegberg, Anna van: Patient’s thoughts and expectations about centres of expertise for PKU / A.M.J. van Wegberg, A. MacDonald, D. Abeln, T.S. Hagedorn, E. Lange, F. Trefz, D. van Vliet and F.J.… , 06 January 2021
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021) Artikel-Nummer 2, 8 Seite
DOI: 10.1186/s13023-020-01647-7
- MacDonald, Anita: Correction to: PKU dietary handbook to accompany PKU guidelines / A. MacDonald, A.M.J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campisto… , 2020 Sep 1. - 1 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 230, Seite 1
DOI: 10.1186/s13023-020-01486-6
- Hillert, Alicia: The genetic landscape and epidemiology of phenylketonuria / Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Ca… , 14 July 2020. - 17 S.
In: The American journal of human genetics, ISSN 1537-6605. 107(2020), 2, Seite 234-250
DOI: 10.1016/j.ajhg.2020.06.006
- MacDonald, Anita: PKU dietary handbook to accompany PKU guidelines / A. MacDonald, A.M.J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campisto… , 30 June 2020. - 22 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 171, Seite 1-22
DOI: 10.1186/s13023-020-01391-y
- Cannet, Claire: Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls : results of NMR metabolomics investigation / Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Pet… , 27 February 2020. - 7 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 61, Seite 1-7
DOI: 10.1186/s13023-020-1329-5
- Vliet, Danique van: Untreated PKU patients without intellectual disability : what do they teach us? / Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, … , 2019. - 10 S.
In: Nutrients, ISSN 2072-6643. 11(2019,11) Artikel-Nummer 2572, 10 Seiten
DOI: 10.3390/nu11112572
- Trefz, Friedrich K.: Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data / K.F. Trefz, A.C. Muntau, K.M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Ja… , 22 July 2019. - 16 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 14(2019), Artikel-ID 181, Seite 1-16
DOI: 10.1186/s13023-019-1153-y
- Pilotto, Andrea: Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria / Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel… , 01 February 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 3, Seite 398-406
DOI: 10.1002/jimd.12049
- Garbade, Sven: Allelic phenotype values : a model for genotype-based phenotype prediction in phenylketonuria / Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffma… , 2019. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 3, Seite 580-590
DOI: 10.1038/s41436-018-0081-x
- Vliet, Danique van: Can untreated PKU patients escape from intellectual disability? : a systematic review / Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, … . -
London: BioMed Central, 29 August 2018. - 1 Online-Ressource (6 Seiten)
DOI: 10.1186/s13023-018-0890-7
- Spronsen, F. J. van: Issues with European guidelines for phenylketonuria - authors' reply / Francjan J van Spronsen, Annemiek MJ van Wegberg, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Bla… , 25 August 2017. - 2 S.
In: The lancet, ISSN 2213-8595. 5(2017), 9, Seite 683-684
DOI: 10.1016/S2213-8587(17)30202-4
- Spronsen, F. J. van: Key European guidelines for the diagnosis and management of patients with phenylketonuria / Francjan J van Spronsen, Annemiek MJ van Wegberg, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Bla… , 10 January 2017. - 14 S. : Illustrationen
In: The lancet, ISSN 2213-8595. 5(2017), 9, Seite 743-756
DOI: 10.1016/S2213-8587(16)30320-5
- Wegberg, Anna van: The complete European guidelines on phenylketonuria : diagnosis and treatment / A. M. J. van Wegberg; A. MacDonald; K. Ahring; A. Bélanger-Quintana; N. Blau; A. M. Bosch; A. Burlin… . -
London: BioMed Central, 2017. - 1 Online-Ressource
DOI: 10.1186/s13023-017-0685-2
- Huemer, Martina: Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency / Martina Huemer, Regina Mulder‐Bleile, Patricie Burda, D. Sean Froese, Terttu Suormala, Bruria Ben Ze… , 2016. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 1, Seite 115-124
DOI: 10.1007/s10545-015-9860-6
- Trefz, Friedrich K.: The Kuvan® adult maternal paediatric European registry (KAMPER) multinational observational study : baseline and 1-Year data in phenylketonuria patients responsive to sapropterin / Friedrich K. Trefz, Ania C. Muntau, Florian B. Lagler, Flavie Moreau, Jan Alm, Alberto Burlina, Fran… , 31 March 2015. - 9 S.
In: JIMD reports, ISSN 2192-8312. 23(2015), Seite 35-43
DOI: 10.1007/8904_2015_425
- Trefz, Friedrich K.: Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia : a semi-mechanistically-based, nonlinear mixed-effect modeling / Friedrich Trefz, Olaf Lichtenberger, Nenad Blau, Ania C. Muntau, Francois Feillet, Amaya Bélanger-Qu… . - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 114(2015), 4, S. 564-569
DOI: 10.1016/j.ymgme.2015.01.013
- MacDonald, Anita: The challenges of managing coexistent disorders with phenylketonuria : 30 cases / A. MacDonald, K. Ahring, M.F. Almeida, A. Belanger-Quintana, N. Blau, A. Burlina, M. Cleary, T. Cosk… . - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 116(2015), 4, S. 242-251
DOI: 10.1016/j.ymgme.2015.10.001
- Trefz, Friedrich K.: Maternale PKU : Erfahrungen und Behandlungsstrategien; ein praxisorientiertes Handbuch für Stoffwechselärzte, Ernährungsfachkräfte, Gynäkologen und Betroffene / F.K. Trefz; P. Funk-Wentzel; J. Heimann. -
Heilbronn: SPS, 2005. - 125 S. : Ill., graph. Darst., ISBN 978-3-936145-20-5
- Mayatepek, Ertan: Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy : a new genetic disease? / E. Mayatepek, G.F. Hoffmann, R. Baumgartner, A. Schulze, C. Jakobs, F.K. Trefz, H.J. Bremer, May 1996. - 6 S.
In: European journal of pediatrics, ISSN 1432-1076. 155(1996), 5, Seite 398-403
DOI: 10.1007/BF01955272
- Hoffmann, Georg F.: Neurological manifestations of organic acid disorders / G.F. Hoffmann, K.M. Gibson, F.K. Trefz, W.L. Nyhan, H.J. Bremer, D. Rating, 1994. - 7 S.
In: European journal of pediatrics, ISSN 1432-1076. 153(1994), suppl. 1, Seite S94-S100
DOI: 10.1007/BF02138786
- Trefz, Friedrich K.: In-vivo-Bestimmung der Aktivität des Phenylalanin-hydroxylierenden Systems : Bedeutung der Methode bei der Differentialdiagnose der Phenylketonurie und ihrer Varianten / vorgelegt von Friedrich Karl Trefz, 1983. - 143 Bl. : graph. Darst.
- Trefz, Friedrich K.: Entwicklung und Bau einer automatisierten Säulenchromatographie-Anlage und ihre Anwendung bei der Untersuchung von Stoffwechselerkrankungen, 1975 [ersch.] 1976. - 61 gez. Bl. : 1 Faltkt.
