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.
2. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Zimmermann M; Jacobs P; Fingerhut R; Torresani T; Thöny B; Blau N; Baumgartner MR; Rohrbach M Mol Genet Metab; 2012 Jul; 106(3):264-8. PubMed ID: 22607939 [TBL] [Abstract][Full Text] [Related]
3. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria. Weglage J; Ullrich K; Pietsch M; Fünders B; Güttler F; Harms E Pediatr Res; 1997 Sep; 42(3):378-84. PubMed ID: 9284280 [TBL] [Abstract][Full Text] [Related]
4. Neuropsychological function in mild hyperphenylalaninemia. Smith ML; Saltzman J; Klim P; Hanley WB; Feigenbaum A; Clarke JT Am J Ment Retard; 2000 Mar; 105(2):69-80. PubMed ID: 10755172 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. Fiege B; Blau N J Pediatr; 2007 Jun; 150(6):627-30. PubMed ID: 17517248 [TBL] [Abstract][Full Text] [Related]
7. Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. Nalin T; Perry ID; Sitta A; Vargas CR; Saraiva-Pereira ML; Giugliani R; Blau N; Schwartz IV Mol Genet Metab; 2011; 104 Suppl():S80-5. PubMed ID: 22014474 [TBL] [Abstract][Full Text] [Related]
8. Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations. Kanufre V; Almeida MF; Barbosa CS; Carmona C; Bandeira A; Martins E; Rocha S; Guimas A; Ribeiro R; MacDonald A; Pinto A; Rocha JC Nutrients; 2021 Sep; 13(9):. PubMed ID: 34578995 [TBL] [Abstract][Full Text] [Related]
9. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Trefz FK; Blau N Pediatrics; 2003 Dec; 112(6 Pt 2):1566-9. PubMed ID: 14654666 [TBL] [Abstract][Full Text] [Related]
10. Phenylketonuria variants in Ontario. Can Med Assoc J; 1976 Sep; 115(6):509-12. PubMed ID: 953933 [TBL] [Abstract][Full Text] [Related]
11. Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Matalon R; Michals-Matalon K; Koch R; Grady J; Tyring S; Stevens RC Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554 [TBL] [Abstract][Full Text] [Related]
12. Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Hanley WB; Demshar H; Preston MA; Borczyk A; Schoonheyt WE; Clarke JT; Feigenbaum A Early Hum Dev; 1997 Jan; 47(1):87-96. PubMed ID: 9118832 [TBL] [Abstract][Full Text] [Related]
13. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. Kasnauskiene J; Cimbalistiene L; Kucinskas V Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344 [TBL] [Abstract][Full Text] [Related]
14. Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. Thoalnoon OA; Kareem AA; Hammoodi HZ Arch Razi Inst; 2023 Apr; 78(2):667-673. PubMed ID: 37396747 [TBL] [Abstract][Full Text] [Related]
15. The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients. Bartus A; Palasti F; Juhasz E; Kiss E; Simonova E; Sumanszki C; Reismann P Metab Brain Dis; 2018 Oct; 33(5):1609-1615. PubMed ID: 29948654 [TBL] [Abstract][Full Text] [Related]
16. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Keil S; Anjema K; van Spronsen FJ; Lambruschini N; Burlina A; Bélanger-Quintana A; Couce ML; Feillet F; Cerone R; Lotz-Havla AS; Muntau AC; Bosch AM; Meli CA; Billette de Villemeur T; Kern I; Riva E; Giovannini M; Damaj L; Leuzzi V; Blau N Pediatrics; 2013 Jun; 131(6):e1881-8. PubMed ID: 23690520 [TBL] [Abstract][Full Text] [Related]
17. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Hennermann JB; Bührer C; Blau N; Vetter B; Mönch E Mol Genet Metab; 2005 Dec; 86 Suppl 1():S86-90. PubMed ID: 16051511 [TBL] [Abstract][Full Text] [Related]
18. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? Pinto A; Ahring K; Almeida MF; Ashmore C; Bélanger-Quintana A; Burlina A; Coşkun T; Daly A; van Dam E; Dursun A; Evans S; Feillet F; Giżewska M; Gökmen-Özel H; Hickson M; Hoekstra Y; Ilgaz F; Jackson R; Leśniak A; Loro C; Malicka K; Patalan M; Rocha JC; Sivri S; Rodenburg I; van Spronsen F; Strączek K; Tokatli A; MacDonald A Nutrients; 2024 Jun; 16(13):. PubMed ID: 38999811 [TBL] [Abstract][Full Text] [Related]
19. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. Fiori L; Fiege B; Riva E; Giovannini M Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137 [TBL] [Abstract][Full Text] [Related]
20. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study. Jahja R; Huijbregts SC; de Sonneville LM; van der Meere JJ; Bosch AM; Hollak CE; Rubio-Gozalbo ME; Brouwers MC; Hofstede FC; de Vries MC; Janssen MC; van der Ploeg AT; Langendonk JG; van Spronsen FJ Mol Genet Metab; 2013; 110 Suppl():S57-61. PubMed ID: 24183792 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]