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

Year Number of Results
1963 8
1964 6
1965 6
1966 5
1967 17
1968 17
1969 13
1970 12
1971 14
1972 8
1973 13
1974 8
1975 13
1976 12
1977 5
1978 8
1979 5
1980 9
1981 7
1982 8
1983 14
1984 8
1985 6
1986 8
1987 14
1988 10
1989 12
1990 11
1991 14
1992 12
1993 10
1994 18
1995 10
1996 13
1997 5
1998 15
1999 13
2000 27
2001 13
2002 18
2003 14
2004 14
2005 11
2006 4
2007 11
2008 12
2009 20
2010 28
2011 24
2012 12
2013 23
2014 8
2015 8
2016 8
2017 8
2018 11
2019 14
2020 24
2021 14
2022 17
2023 24
2024 11

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735 results

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Page 1
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. van Spronsen FJ, et al. Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. Nat Rev Dis Primers. 2021. PMID: 34017006 Free PMC article. Review.
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
Severe phenotypes are classic PKU, and less severe forms of PAH deficiency are moderate PKU, mild PKU, mild hyperphenylalaninaemia (HPA), or benign HPA. Early diagnosis and intervention must start shortly after birth to prevent major cognitive and neurological effects. ...
Severe phenotypes are classic PKU, and less severe forms of PAH deficiency are moderate PKU, mild PKU, mild hyperphenylalaninaemia (H …
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. 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.
Phenylketonuria.
Blau N, van Spronsen FJ, Levy HL. Blau N, et al. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Lancet. 2010. PMID: 20971365 Review.
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. ...
Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperph
Genetics of Phenylketonuria: Then and Now.
Blau N. Blau N. Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26919687 Review.
Inherited deficiencies in BH4 metabolism account for about 1%-2% of all hyperphenylalaninemias and are clinically more severe than PKU. Almost 90% of all patients are deficient in 6-pyruvoyl-tetrahydropterin synthase and dihydropteridine reductase....
Inherited deficiencies in BH4 metabolism account for about 1%-2% of all hyperphenylalaninemias and are clinically more severe than PK …
Phenylketonuria and the brain.
Rovelli V, Longo N. Rovelli V, et al. Mol Genet Metab. 2023 May;139(1):107583. doi: 10.1016/j.ymgme.2023.107583. Epub 2023 Apr 15. Mol Genet Metab. 2023. PMID: 37105048 Review.
[Phenylketonuria, from diet to gene therapy].
Wiedemann A, Oussalah A, Jeannesson É, Guéant JL, Feillet F. Wiedemann A, et al. Med Sci (Paris). 2020 Aug-Sep;36(8-9):725-734. doi: 10.1051/medsci/2020127. Epub 2020 Aug 21. Med Sci (Paris). 2020. PMID: 32821049 Free article. Review. French.
Phenylketonuria: Current Treatments and Future Developments.
Lichter-Konecki U, Vockley J. Lichter-Konecki U, et al. Drugs. 2019 Apr;79(5):495-500. doi: 10.1007/s40265-019-01079-z. Drugs. 2019. PMID: 30864096 Review.
Patient phenotypes are on a continuous spectrum from mild hyperphenylalaninemia to mild PKU, moderate PKU, and severe classic PKU. ...This article reviews the mainstay therapy, adjunct enzyme cofactor therapy, and the newly available enzyme substitution therapy for hype
Patient phenotypes are on a continuous spectrum from mild hyperphenylalaninemia to mild PKU, moderate PKU, and severe classic PKU. .. …
State-of-the-art 2023 on gene therapy for phenylketonuria.
Martinez M, Harding CO, Schwank G, Thöny B. Martinez M, et al. J Inherit Metab Dis. 2024 Jan;47(1):80-92. doi: 10.1002/jimd.12651. Epub 2023 Aug 3. J Inherit Metab Dis. 2024. PMID: 37401651 Review.
Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on murine models that replicate all human pathology, an exemplar model for experimental studies on liver gene therapy. Variants in the PAH gene t …
Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on mu …
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH(4) biosynthesis or recycling. Hyperphenylalan
BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient syn …
735 results