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Year Number of Results
1975 1
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1982 3
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1985 3
1987 3
1988 1
1989 3
1990 1
1991 3
1992 2
1993 5
1994 3
1996 3
1998 3
1999 3
2000 8
2001 5
2002 2
2003 3
2004 1
2005 3
2006 1
2007 1
2008 5
2009 4
2010 3
2011 2
2012 2
2013 2
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2015 2
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108 results

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Page 1
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Scala I, Brodosi L, Gueraldi D, Manti F, Rovelli V, Zuvadelli J, Agnelli G, Cazzorla C, Nardecchia F, Giammanco A, Biasucci G. Scala I, et al. Mol Genet Metab. 2024 May;142(1):108151. doi: 10.1016/j.ymgme.2024.108151. Epub 2024 Feb 2. Mol Genet Metab. 2024. PMID: 38522180 Free article.
OBJECTIVE: The aim of this study is to present a series of case studies on the real-life use of pegvaliase in Italy in managing patients affected by phenylketonuria (PKU) and provide practical insight and support to healthcare professionals currently approaching and facing …
OBJECTIVE: The aim of this study is to present a series of case studies on the real-life use of pegvaliase in Italy in managing patients aff …
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Adams AD, et al. Genet Med. 2023 Sep;25(9):100358. doi: 10.1016/j.gim.2022.12.005. Epub 2023 Jul 20. Genet Med. 2023. PMID: 37470789
PURPOSE: Elevated serum phenylalanine (Phe) levels due to biallelic pathogenic variants in phenylalanine hydroxylase (PAH) may cause neurodevelopmental disorders or birth defects from maternal phenylketonuria. New Phe reduction treatments have been approved in the l …
PURPOSE: Elevated serum phenylalanine (Phe) levels due to biallelic pathogenic variants in phenylalanine hydroxylase (PAH) may cause neurode …
Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria.
Gao H. Gao H. Evid Based Complement Alternat Med. 2022 Jul 4;2022:5245200. doi: 10.1155/2022/5245200. eCollection 2022. Evid Based Complement Alternat Med. 2022. Retraction in: Evid Based Complement Alternat Med. 2023 Dec 13;2023:9756761. doi: 10.1155/2023/9756761. PMID: 35832522 Free PMC article. Retracted.
OBJECTIVE: To explore and analyze the influencing factors of tetrahydrobiopterin therapy in patients with phenylketonuria. METHODS: 86 children with phenylketonuria (PKU) diagnosed and treated in our hospital from February 2019 to September 2021 were randomly
OBJECTIVE: To explore and analyze the influencing factors of tetrahydrobiopterin therapy in patients with phenylketonuria. METHODS: 8 …
Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.
Scala I, Concolino D, Nastasi A, Esposito G, Crisci D, Sestito S, Ferraro S, Albano L, Ruoppolo M, Parenti G, Strisciuglio P. Scala I, et al. Nutrients. 2021 Nov 10;13(11):4012. doi: 10.3390/nu13114012. Nutrients. 2021. PMID: 34836270 Free PMC article.
The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients. ...
The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and m …
Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
Burlina A, Biasucci G, Carbone MT, Cazzorla C, Paci S, Pochiero F, Spada M, Tummolo A, Zuvadelli J, Leuzzi V. Burlina A, et al. Orphanet J Rare Dis. 2021 Nov 16;16(1):476. doi: 10.1186/s13023-021-02086-8. Orphanet J Rare Dis. 2021. PMID: 34784942 Free PMC article.
BACKGROUND: Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. ...CONSENSUS PROCESS: The Steering Committee met in a series of virtua …
BACKGROUND: Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH …
Tyrosine supplementation for phenylketonuria.
Remmington T, Smith S. Remmington T, et al. Cochrane Database Syst Rev. 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. Cochrane Database Syst Rev. 2021. PMID: 33427303 Free PMC article.
SELECTION CRITERIA: All randomised or quasi-randomised trials investigating the use of tyrosine supplementation versus placebo in people with phenylketonuria in addition to, or instead of, a phenylalanine-restricted diet. People treated for maternal
SELECTION CRITERIA: All randomised or quasi-randomised trials investigating the use of tyrosine supplementation versus placebo …
Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362
OBSERVATIONS: It is recommended that tetrahydrobiopterin-responsive hyperphenylalaninemia should be diagnosed in all cases of hyperphenylalaninemia, including phenylketonuria, by tetrahydrobiopterin administration tests rather than by phenotype or blood phenylalanine level …
OBSERVATIONS: It is recommended that tetrahydrobiopterin-responsive hyperphenylalaninemia should be diagnosed in all cases of hyperphenylala …
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.
Caletti MT, Bettocchi I, Baronio F, Brodosi L, Cataldi S, Petroni ML, Cassio A, Marchesini G. Caletti MT, et al. Nutr Metab Cardiovasc Dis. 2020 Jun 9;30(6):977-983. doi: 10.1016/j.numecd.2020.02.003. Epub 2020 Feb 20. Nutr Metab Cardiovasc Dis. 2020. PMID: 32409273
BACKGROUND AND AIMS: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance. ...CONCLUSIONS: Several factors influence metabolic phenotype in maternal PKU, to an unpredictable exte …
BACKGROUND AND AIMS: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjuste …
The first study of successful pregnancies in Chinese patients with Phenylketonuria.
Wang L, Ye F, Zou H, Wang K, Chen Z, Hui Q, Han B, He C, Li X, Shen M. Wang L, et al. BMC Pregnancy Childbirth. 2020 Apr 28;20(1):253. doi: 10.1186/s12884-020-02941-9. BMC Pregnancy Childbirth. 2020. PMID: 32345238 Free PMC article.
This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU). METHOD: Married patients with PKU from 2012 to 2017 were enrolled to receive prenatal counseling and regular health assessments. ...CONCLUSION: This is …
This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU). METHOD: Mar …
Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria.
Scala I, Riccio MP, Marino M, Bravaccio C, Parenti G, Strisciuglio P. Scala I, et al. Nutrients. 2020 Apr 15;12(4):1092. doi: 10.3390/nu12041092. Nutrients. 2020. PMID: 32326614 Free PMC article.
Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet. ...
Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet. ...
108 results