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 NCBI Filters

Results by year

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

Year Number of Results
1977 1
1979 2
1986 1
1988 1
1990 5
1998 1
1999 1
2001 3
2003 1
2007 1
2010 1
2019 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Page 1
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 …
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 …
A practical approach to maternal phenylketonuria management.
Maillot F, Cook P, Lilburn M, Lee PJ. Maillot F, et al. J Inherit Metab Dis. 2007 Apr;30(2):198-201. doi: 10.1007/s10545-007-0436-y. Epub 2007 Mar 9. J Inherit Metab Dis. 2007. PMID: 17351826 Review.
More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, growth retardation, developmental delay and congenital heart disease. ...The aims of managemen …
More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on …
National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.
National Institutes of Health Consensus Development Panel. National Institutes of Health Consensus Development Panel. Pediatrics. 2001 Oct;108(4):972-82. doi: 10.1542/peds.108.4.972. Pediatrics. 2001. PMID: 11581453 Review.
OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of currently available data regarding screening for and management of phenylketonuria (PKU). ...To achieve optimal statistical power and cross-cultural applic …
OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of currently available da …
Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress.
Schulpis K, Iakovou KK. Schulpis K, et al. J Pediatr Endocrinol Metab. 2019 Jul 26;32(7):791-795. doi: 10.1515/jpem-2019-0109. J Pediatr Endocrinol Metab. 2019. PMID: 31194686
Breastfeeding replacement is the only treatment for galactosemia (GAL) and phenylketonuria (PKU) during infancy. We aimed to evaluate the stress degree in mothers who were obliged to replace breastfeeding with special formulas as the only treatment for the diseased newborn …
Breastfeeding replacement is the only treatment for galactosemia (GAL) and phenylketonuria (PKU) during infancy. We aimed to evaluate …
Treatment of the embryo and the fetus in the first trimester: current status and future prospects.
Schulman JD. Schulman JD. Am J Med Genet. 1990 Feb;35(2):197-200. doi: 10.1002/ajmg.1320350211. Am J Med Genet. 1990. PMID: 2178415 Review.
Some vitamin-responsive inborn errors of metabolism can be treated prenatally by cofactor administration. Maternal phenylketonuria and maternal diabetes mellitus and the prevention of recurrent neural tube defects are also areas where therapeutic advan …
Some vitamin-responsive inborn errors of metabolism can be treated prenatally by cofactor administration. Maternal phenylketonuria …
Psychosocial issues and outcomes in maternal PKU.
Koch R, Trefz F, Waisbren S. Koch R, et al. Mol Genet Metab. 2010;99 Suppl 1:S68-74. doi: 10.1016/j.ymgme.2009.10.014. Mol Genet Metab. 2010. PMID: 20123474
Elevated phenylalanine (Phe) levels in pregnant women with PKU are teratogenic. Fetal damage due to elevated maternal Phe levels during pregnancy is known as maternal phenylketonuria (MPKU). ...Many factors affect adherence to the strict diet used to control …
Elevated phenylalanine (Phe) levels in pregnant women with PKU are teratogenic. Fetal damage due to elevated maternal Phe levels duri …
The challenge of maternal phenylketonuria screening and treatment.
Luke B, Keith LG. Luke B, et al. J Reprod Med. 1990 Jul;35(7):667-73. J Reprod Med. 1990. PMID: 2198347 Review.
All newborn infants, male and female, have been screened for phenylketonuria (PKU) since 1961. Medical therapy is generally continued until age 6. ...This paper reviews the implications of childbearing in women who were treated for PKU as children and are no longer …
All newborn infants, male and female, have been screened for phenylketonuria (PKU) since 1961. Medical therapy is generally co …
Maternal phenylketonuria: case management as a preventive approach to a chronic condition affecting pregnancy.
Hickey CA, Covington C. Hickey CA, et al. NAACOGS Clin Issu Perinat Womens Health Nurs. 1990;1(2):214-25. NAACOGS Clin Issu Perinat Womens Health Nurs. 1990. PMID: 2390405
Intensive case management may provide a preventive approach to the current "crisis" in the management of maternal phenylketonuria, as well as facilitate ongoing diet therapy during adolescence and adulthood....
Intensive case management may provide a preventive approach to the current "crisis" in the management of maternal phenylketonuria …
Tyrosine supplementation in the treatment of maternal phenylketonuria.
Rohr FJ, Lobbregt D, Levy HL. Rohr FJ, et al. Am J Clin Nutr. 1998 Mar;67(3):473-6. doi: 10.1093/ajcn/67.3.473. Am J Clin Nutr. 1998. PMID: 9497192
Lower than average concentrations of tyrosine could be a factor in the fetal damage produced by maternal phenylketonuria (PKU). Dietary supplementation with L-tyrosine has been inconsistent in these reported pregnancies. ...These results indicate that the plasma tyr …
Lower than average concentrations of tyrosine could be a factor in the fetal damage produced by maternal phenylketonuria (PKU) …
21 results