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Results: 1 to 20 of 260

1.

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria.

Hood A, Grange DK, Christ SE, Steiner R, White DA.

Mol Genet Metab. 2014 Apr;111(4):445-51. doi: 10.1016/j.ymgme.2014.01.012. Epub 2014 Jan 31.

PMID:
24568837
[PubMed - in process]
2.

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.

PMID:
24560888
[PubMed - in process]
3.

Characterization of 2-(methylamino)alkanoic acid capacity to restrict blood-brain phenylalanine transport in Pah enu2 mice: preliminary findings.

Vogel KR, Arning E, Wasek BL, Bottiglieri T, Gibson KM.

Mol Genet Metab. 2013;110 Suppl:S71-8. doi: 10.1016/j.ymgme.2013.08.004. Epub 2013 Aug 15.

PMID:
23999161
[PubMed - in process]
Free PMC Article
4.

Genomics in newborn screening.

Landau YE, Lichter-Konecki U, Levy HL.

J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27. Review. No abstract available.

PMID:
23992678
[PubMed - indexed for MEDLINE]
5.

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria.

White DA, Antenor-Dorsey JA, Grange DK, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Christ SE.

Mol Genet Metab. 2013 Nov;110(3):213-7. doi: 10.1016/j.ymgme.2013.07.010. Epub 2013 Jul 19.

PMID:
23928118
[PubMed - indexed for MEDLINE]
6.

White matter integrity and executive abilities in individuals with phenylketonuria.

Antenor-Dorsey JA, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Grange DK, Christ SE, White DA.

Mol Genet Metab. 2013 Jun;109(2):125-31. doi: 10.1016/j.ymgme.2013.03.020. Epub 2013 Apr 6.

PMID:
23608077
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy.

Araujo GC, Christ SE, Grange DK, Steiner RD, Coleman C, Timmerman E, White DA.

Dev Neuropsychol. 2013;38(3):139-52. doi: 10.1080/87565641.2012.718816.

PMID:
23573793
[PubMed - indexed for MEDLINE]
8.

Non-physiological amino acid (NPAA) therapy targeting brain phenylalanine reduction: pilot studies in PAHENU2 mice.

Vogel KR, Arning E, Wasek BL, Bottiglieri T, Gibson KM.

J Inherit Metab Dis. 2013 May;36(3):513-23. doi: 10.1007/s10545-012-9524-8. Epub 2012 Sep 14.

PMID:
22976763
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Processing speed and executive abilities in children with phenylketonuria.

Janos AL, Grange DK, Steiner RD, White DA.

Neuropsychology. 2012 Nov;26(6):735-43. doi: 10.1037/a0029419. Epub 2012 Aug 6.

PMID:
22866986
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Heintz C, Dobrowolski SF, Andersen HS, Demirkol M, Blau N, Andresen BS.

Mol Genet Metab. 2012 Aug;106(4):403-11. doi: 10.1016/j.ymgme.2012.05.013. Epub 2012 May 29.

PMID:
22698810
[PubMed - indexed for MEDLINE]
11.

Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).

Hamman KJ, Winn SR, Harding CO.

Mol Genet Metab. 2011 Nov;104(3):235-40. doi: 10.1016/j.ymgme.2011.07.027. Epub 2011 Aug 4.

PMID:
21917493
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Biological and social influences on cognitive control processes dependent on prefrontal cortex.

Diamond A.

Prog Brain Res. 2011;189:319-39. doi: 10.1016/B978-0-444-53884-0.00032-4. Review.

PMID:
21489397
[PubMed - indexed for MEDLINE]
13.

Newborn screening residual dried blood spot use for newborn screening quality improvement.

Benkendorf J, Goodspeed T, Watson MS.

Genet Med. 2010 Dec;12(12 Suppl):S269-72. doi: 10.1097/GIM.0b013e3181fea489.

PMID:
21150375
[PubMed - indexed for MEDLINE]
14.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Dobrowolski SF, Heintz C, Miller T, Ellingson C, Ellingson C, Ozer I, Gökçay G, Baykal T, Thöny B, Demirkol M, Blau N.

Mol Genet Metab. 2011 Feb;102(2):116-21. doi: 10.1016/j.ymgme.2010.11.158. Epub 2010 Nov 18.

PMID:
21147011
[PubMed - indexed for MEDLINE]
15.

Executive strategic processing during verbal fluency performance in children with phenylketonuria.

Banerjee P, Grange DK, Steiner RD, White DA.

Child Neuropsychol. 2011;17(2):105-17. doi: 10.1080/09297049.2010.525502. Epub 2010 Dec 7.

PMID:
21140312
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Advances and challenges in phenylketonuria.

Harding CO, Blau N.

J Inherit Metab Dis. 2010 Dec;33(6):645-8. doi: 10.1007/s10545-010-9247-7. No abstract available.

PMID:
21086047
[PubMed - indexed for MEDLINE]
17.

Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria.

MacLeod EL, Clayton MK, van Calcar SC, Ney DM.

Mol Genet Metab. 2010 Aug;100(4):303-8. doi: 10.1016/j.ymgme.2010.04.003. Epub 2010 Apr 14.

PMID:
20466571
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum.

White DA, Connor LT, Nardos B, Shimony JS, Archer R, Snyder AZ, Moinuddin A, Grange DK, Steiner RD, McKinstry RC.

Mol Genet Metab. 2010;99 Suppl 1:S41-6. doi: 10.1016/j.ymgme.2009.09.016.

PMID:
20123469
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.

MacLeod EL, Gleason ST, van Calcar SC, Ney DM.

Mol Genet Metab. 2009 Dec;98(4):331-7. doi: 10.1016/j.ymgme.2009.07.016. Epub 2009 Aug 8.

PMID:
19747868
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Purification and use of glycomacropeptide for nutritional management of phenylketonuria.

Laclair CE, Ney DM, MacLeod EL, Etzel MR.

J Food Sci. 2009 May-Jul;74(4):E199-206. doi: 10.1111/j.1750-3841.2009.01134.x.

PMID:
19490325
[PubMed - indexed for MEDLINE]
Free PMC Article

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