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

Edit custom filters

Results by year

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

Year Number of Results
1957 2
1963 2
1964 1
1966 2
1967 3
1968 4
1969 6
1970 8
1971 10
1972 6
1973 12
1974 8
1975 13
1976 11
1977 16
1978 11
1979 16
1980 18
1981 9
1982 17
1983 19
1984 15
1985 17
1986 19
1987 19
1988 21
1989 16
1990 18
1991 21
1992 32
1993 41
1994 33
1995 27
1996 36
1997 29
1998 34
1999 34
2000 47
2001 42
2002 40
2003 51
2004 47
2005 33
2006 62
2007 44
2008 38
2009 50
2010 41
2011 43
2012 53
2013 55
2014 59
2015 60
2016 44
2017 57
2018 48
2019 51
2020 45
2021 47
2022 45
2023 50
2024 44
2025 49
2026 37

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,741 results

Results by year

Filters applied: . Clear all
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.
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. ...Dietary restriction of …
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of pheny …
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee. Vockley J, et al. Genet Med. 2014 Feb;16(2):188-200. doi: 10.1038/gim.2013.157. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24385074 Free article.
The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. ...Pharmacotherapy for phenylalan …
The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxyl …
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: documents@acmg.net. Smith WE, et al. Genet Med. 2025 Jan;27(1):101289. doi: 10.1016/j.gim.2024.101289. Epub 2024 Dec 4. Genet Med. 2025. PMID: 39630157 Free article.
PURPOSE: To replace an existing clinical practice guideline for the diagnosis and management of phenylalanine hydroxylase (PAH) deficiency. METHODS: The PAH Deficiency Guideline Workgroup used the Grading of Recommendations Assessment, Development, and …
PURPOSE: To replace an existing clinical practice guideline for the diagnosis and management of phenylalanine hydroxylase (PAH …
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR. Mitchell JJ, et al. Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Genet Med. 2011. PMID: 21555948 Free article. Review.
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. ...Classic phenylketonuria is caused by a complete or near-complete deficiency of ph …
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of t …
Phenylalanine deficiency syndrome.
Rouse BM. Rouse BM. J Pediatr. 1966 Aug;69(2):246-9. doi: 10.1016/s0022-3476(66)80327-x. J Pediatr. 1966. PMID: 5946650 No abstract available.
Bacteria activate sensory neurons that modulate pain and inflammation.
Chiu IM, Heesters BA, Ghasemlou N, Von Hehn CA, Zhao F, Tran J, Wainger B, Strominger A, Muralidharan S, Horswill AR, Bubeck Wardenburg J, Hwang SW, Carroll MC, Woolf CJ. Chiu IM, et al. Nature. 2013 Sep 5;501(7465):52-7. doi: 10.1038/nature12479. Epub 2013 Aug 21. Nature. 2013. PMID: 23965627 Free PMC article.
Dietary protein distribution positively influences 24-h muscle protein synthesis in healthy adults.
Mamerow MM, Mettler JA, English KL, Casperson SL, Arentson-Lantz E, Sheffield-Moore M, Layman DK, Paddon-Jones D. Mamerow MM, et al. J Nutr. 2014 Jun;144(6):876-80. doi: 10.3945/jn.113.185280. Epub 2014 Jan 29. J Nutr. 2014. PMID: 24477298 Free PMC article. Clinical Trial.
The RDA for protein describes the quantity that should be consumed daily to meet population needs and to prevent deficiency. Protein consumption in many countries exceeds the RDA; however, intake is often skewed toward the evening meal, whereas breakfast is typically carbo …
The RDA for protein describes the quantity that should be consumed daily to meet population needs and to prevent deficiency. Protein …
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K. Kure S, et al. J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1. J Pediatr. 1999. PMID: 10484807
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. ...However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase …
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. ...Howe …
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
[No authors listed] [No authors listed] Obstet Gynecol. 2020 Apr;135(4):e167-e170. doi: 10.1097/AOG.0000000000003768. Obstet Gynecol. 2020. PMID: 32217978
Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. ...Although phenylalanine levels are increased in the breast milk of pati …
Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is chara …
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
[No authors listed] [No authors listed] Obstet Gynecol. 2020 Apr;135(4):987-988. doi: 10.1097/AOG.0000000000003769. Obstet Gynecol. 2020. PMID: 32217972
Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is characterized by insufficient activity of PAH, a hepatic enzyme. ...Although phenylalanine levels are increased in the breast milk of pati …
Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder of phenylalanine metabolism that is chara …
1,741 results