Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1972 1
1975 2
1976 3
1978 1
1979 1
1980 2
1981 2
1984 2
1986 1
1988 4
1989 3
1990 4
1991 7
1992 6
1993 4
1994 8
1995 2
1996 6
1997 2
1998 1
1999 3
2000 8
2001 7
2002 5
2003 8
2004 3
2005 1
2006 2
2007 2
2008 2
2009 5
2010 9
2011 5
2012 3
2013 4
2014 3
2015 10
2016 4
2017 8
2018 5
2019 7
2020 8
2021 12
2022 3
2023 3
2024 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

183 results

Results by year

Filters applied: . Clear all
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.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, 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, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Among authors: trefz f. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. MacDonald A, et al. Among authors: trefz f. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Orphanet J Rare Dis. 2020. PMID: 32605583 Free PMC article. Review.
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.
Is overweight an issue in phenylketonuria?
Rocha JC, MacDonald A, Trefz F. Rocha JC, et al. Among authors: trefz f. Mol Genet Metab. 2013;110 Suppl:S18-24. doi: 10.1016/j.ymgme.2013.08.012. Epub 2013 Aug 31. Mol Genet Metab. 2013. PMID: 24055312 Review.
Letter to the Editor.
Trefz FM, Lorch A, Knubben-Schweizer G, Lorenz I. Trefz FM, et al. J Vet Intern Med. 2015 Nov-Dec;29(6):1454-5. doi: 10.1111/jvim.13610. Epub 2015 Oct 8. J Vet Intern Med. 2015. PMID: 26446040 Free PMC article. No abstract available.
Maternal phenylketonuria: an international study.
Koch R, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Friedman E, Platt L, de la Cruz F. Koch R, et al. Among authors: trefz f. Mol Genet Metab. 2000 Sep-Oct;71(1-2):233-9. doi: 10.1006/mgme.2000.3038. Mol Genet Metab. 2000. PMID: 11001815 Review.
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.
Adult phenylketonuria outcome and management.
Trefz F, Maillot F, Motzfeldt K, Schwarz M. Trefz F, et al. Mol Genet Metab. 2011;104 Suppl:S26-30. doi: 10.1016/j.ymgme.2011.08.025. Epub 2011 Aug 26. Mol Genet Metab. 2011. PMID: 21944883 Review.
183 results