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Items: 1 to 20 of 109

1.

Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia.

Pascucci T, Giacovazzo G, Andolina D, Accoto A, Fiori E, Ventura R, Orsini C, Conversi D, Carducci C, Leuzzi V, Puglisi-Allegra S.

PLoS One. 2013 Dec 20;8(12):e84697. doi: 10.1371/journal.pone.0084697. eCollection 2013.

2.

Prefrontal cortex cognitive deficits in children treated early and continuously for PKU.

Diamond A, Prevor MB, Callender G, Druin DP.

Monogr Soc Res Child Dev. 1997;62(4):i-v, 1-208.

PMID:
9421921
3.

An animal model of early-treated PKU.

Diamond A, Ciaramitaro V, Donner E, Djali S, Robinson MB.

J Neurosci. 1994 May;14(5 Pt 2):3072-82.

4.

Evidence for the importance of dopamine for prefrontal cortex functions early in life.

Diamond A.

Philos Trans R Soc Lond B Biol Sci. 1996 Oct 29;351(1346):1483-93; discussion 1494. Review.

PMID:
8941960
5.

Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pah(enu2) mice.

Sawin EA, Murali SG, Ney DM.

Mol Genet Metab. 2014 Apr;111(4):452-61. doi: 10.1016/j.ymgme.2014.01.015. Epub 2014 Feb 8.

6.

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.

Trefz FK, Blau N.

Pediatrics. 2003 Dec;112(6 Pt 2):1566-9.

PMID:
14654666
7.

5-Hydroxytryptophan during critical postnatal period improves cognitive performances and promotes dendritic spine maturation in genetic mouse model of phenylketonuria.

Andolina D, Conversi D, Cabib S, Trabalza A, Ventura R, Puglisi-Allegra S, Pascucci T.

Int J Neuropsychopharmacol. 2011 May;14(4):479-89. doi: 10.1017/S1461145710001288. Epub 2010 Nov 1.

8.
9.

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria.

Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A.

Mol Genet Metab. 2010 Jul;100(3):229-33. doi: 10.1016/j.ymgme.2010.03.022. Epub 2010 Apr 3.

10.

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. doi: 10.1016/j.ymgme.2011.09.019. Epub 2011 Sep 20.

PMID:
22014474
11.

Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria.

Gropper SS, Yannicelli S, White BD, Medeiros DM.

Mol Genet Metab. 2004 May;82(1):76-82.

PMID:
15110326
12.

Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma.

Hanley WB.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):23-6. doi: 10.1016/j.ymgme.2011.05.007. Epub 2011 May 14. Review.

PMID:
21632269
13.

Animal models of brain dysfunction in phenylketonuria.

Martynyuk AE, van Spronsen FJ, Van der Zee EA.

Mol Genet Metab. 2010;99 Suppl 1:S100-5. doi: 10.1016/j.ymgme.2009.10.181.

PMID:
20123463
14.

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.

PMID:
14654659
15.

Impaired glutamatergic synaptic transmission in the PKU brain.

Martynyuk AE, Glushakov AV, Sumners C, Laipis PJ, Dennis DM, Seubert CN.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S34-42. Epub 2005 Sep 8. Review.

PMID:
16153867
16.

Reversal of metabolic and neurological symptoms of phenylketonuric mice treated with a PAH containing helper-dependent adenoviral vector.

Cerreto M, Mehdawy B, Ombrone D, Nisticò R, Ruoppolo M, Usiello A, Daniele A, Pastore L, Salvatore F.

Curr Gene Ther. 2012 Feb 1;12(1):48-56.

PMID:
22348550
18.

A comparison of phenylketonuria with attention deficit hyperactivity disorder: do markedly different aetiologies deliver common phenotypes?

Stevenson M, McNaughton N.

Brain Res Bull. 2013 Oct;99:63-83. doi: 10.1016/j.brainresbull.2013.10.003. Epub 2013 Oct 16. Review.

PMID:
24140048
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. Epub 2005 Sep 28.

PMID:
16198137
20.

Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.

Porta F, Mussa A, Zanin A, Greggio NA, Burlina A, Spada M.

J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):345-50. doi: 10.1097/MPG.0b013e3182093b32.

PMID:
21336059

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