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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.
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: trefz fk. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
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.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: trefz fk. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
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
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.
Outcome of tyrosinaemia type III.
Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV. Ellaway CJ, et al. Among authors: trefz fk. J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064. J Inherit Metab Dis. 2001. PMID: 11916315
111 results