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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 2
1976 3
1978 1
1979 1
1980 2
1981 2
1986 1
1988 4
1989 3
1990 4
1991 7
1992 6
1993 4
1994 6
1995 2
1996 3
1997 1
1998 1
1999 2
2000 3
2001 5
2002 3
2003 5
2004 2
2005 1
2006 1
2007 2
2008 3
2009 6
2010 8
2011 2
2012 1
2014 2
2015 4
2016 2
2017 3
2018 2
2019 2
2020 1
2021 3
2024 2
2025 0

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111 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: trefz fk. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: trefz fk. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Familial nesidioblastosis.
Hammersen G, Trefz FK, Schmidt H. Hammersen G, et al. Among authors: trefz fk. J Pediatr. 1980 Apr;96(4):778. doi: 10.1016/s0022-3476(80)80773-6. J Pediatr. 1980. PMID: 7359295 No abstract available.
Aspartame: review of safety.
Butchko HH, Stargel WW, Comer CP, Mayhew DA, Benninger C, Blackburn GL, de Sonneville LM, Geha RS, Hertelendy Z, Koestner A, Leon AS, Liepa GU, McMartin KE, Mendenhall CL, Munro IC, Novotny EJ, Renwick AG, Schiffman SS, Schomer DL, Shaywitz BA, Spiers PA, Tephly TR, Thomas JA, Trefz FK. Butchko HH, et al. Among authors: trefz fk. Regul Toxicol Pharmacol. 2002 Apr;35(2 Pt 2):S1-93. doi: 10.1006/rtph.2002.1542. Regul Toxicol Pharmacol. 2002. PMID: 12180494 Review.
Neurological manifestations of organic acid disorders.
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Among authors: trefz fk. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Blau N, et al. Among authors: trefz fk. Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Mol Genet Metab. 2009. PMID: 19208488 Review.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: trefz fk. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Neonatal screening for citrullinaemia.
Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, Trefz FK, Koch HG, Häberle J, Korall H, Marquardt I, Korenke C. Sander J, et al. Among authors: trefz fk. Eur J Pediatr. 2003 Jun;162(6):417-20. doi: 10.1007/s00431-003-1177-z. Epub 2003 Apr 8. Eur J Pediatr. 2003. PMID: 12684898
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.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: trefz fk. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
111 results