These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe. Lowe TB; DeLuca J; Arnold GL Orphanet J Rare Dis; 2020 Sep; 15(1):266. PubMed ID: 32977849 [TBL] [Abstract][Full Text] [Related]
5. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices. Yuskiv N; Potter BK; Stockler S; Ueda K; Giezen A; Cheng B; Langley E; Ratko S; Austin V; Chapman M; Chakraborty P; Collet JP; Pender A; Orphanet J Rare Dis; 2019 Jan; 14(1):7. PubMed ID: 30621767 [TBL] [Abstract][Full Text] [Related]
6. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status. Kohlschütter B; Ellerbrok M; Merkel M; Tchirikov M; Zschocke J; Santer R; Ullrich K J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S1-4. PubMed ID: 19194782 [TBL] [Abstract][Full Text] [Related]
7. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing. Wilson RD; De Bie I; Armour CM; Brown RN; Campagnolo C; Carroll JC; Okun N; Nelson T; Zwingerman R; Audibert F; Brock JA; Brown RN; Campagnolo C; Carroll JC; De Bie I; Johnson JA; Okun N; Pastruck M; Vallée-Pouliot K; Wilson RD; Zwingerman R; Armour C; Chitayat D; De Bie I; Fernandez S; Kim R; Lavoie J; Leonard N; Nelson T; Taylor S; Van Allen M; Van Karnebeek C J Obstet Gynaecol Can; 2016 Aug; 38(8):742-762.e3. PubMed ID: 27638987 [TBL] [Abstract][Full Text] [Related]
9. Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L). Corsello G; Bosco P; Calì F; Greco D; Cammarata M; Ciaccio M; Piccione M; Romano V Eur J Pediatr; 1999 Jan; 158(1):83-4. PubMed ID: 9950317 [No Abstract] [Full Text] [Related]
10. Committee opinion no: 636: Management of women with phenylketonuria. Obstet Gynecol; 2015 Jun; 125(6):1548-1550. PubMed ID: 26000544 [TBL] [Abstract][Full Text] [Related]
11. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659 [TBL] [Abstract][Full Text] [Related]
12. 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; Genet Med; 2023 Sep; 25(9):100358. PubMed ID: 37470789 [TBL] [Abstract][Full Text] [Related]
14. ACOG committee opinion. Maternal phenylketonuria. Committee on Genetics. Committee on Genetics, American College of Obstetricians and Gynecologists, Washington, DC 20090-6920, USA. Int J Gynaecol Obstet; 2001 Jan; 72(1):83-4. PubMed ID: 11203688 [No Abstract] [Full Text] [Related]
15. Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. Koch R; Güttler F; Guldberg P; Rouse B Mol Genet Metab; 1998 Feb; 63(2):148-50. PubMed ID: 9562969 [TBL] [Abstract][Full Text] [Related]
16. [Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)]. Żółkowska J; Hozyasz KK; Nowacka M Dev Period Med; 2017; 21(4):344-360. PubMed ID: 29291362 [TBL] [Abstract][Full Text] [Related]
17. Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? Wiedemann A; Leheup B; Battaglia-Hsu SF; Jonveaux P; Jeannesson E; Feillet F Mol Genet Metab; 2013; 110 Suppl():S62-5. PubMed ID: 24051226 [TBL] [Abstract][Full Text] [Related]
18. Role of nutrition in pregnancy with phenylketonuria and birth defects. Matalon KM; Acosta PB; Azen C Pediatrics; 2003 Dec; 112(6 Pt 2):1534-6. PubMed ID: 14654660 [TBL] [Abstract][Full Text] [Related]
19. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Prick BW; Hop WC; Duvekot JJ Am J Clin Nutr; 2012 Feb; 95(2):374-82. PubMed ID: 22205310 [TBL] [Abstract][Full Text] [Related]