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Results: 1 to 20 of 98

PubMed Links for Books (Select 1475748)

1.

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

Burton BK, Leviton L, Vespa H, Coon H, Longo N, Lundy BD, Johnson M, Angelino A, Hamosh A, Bilder D.

Mol Genet Metab. 2013 Jan;108(1):8-12. doi: 10.1016/j.ymgme.2012.11.003. Epub 2012 Nov 15.

PMID:
23266195
2.

Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.

Fonnesbeck CJ, McPheeters ML, Krishnaswami S, Lindegren ML, Reimschisel T.

J Inherit Metab Dis. 2013 Sep;36(5):757-66. doi: 10.1007/s10545-012-9564-0. Epub 2012 Nov 30.

PMID:
23197105
3.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, Prokisch H.

J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.

4.

Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients.

de Groot MJ, Hoeksma M, van Rijn M, Slart RH, van Spronsen FJ.

Mol Genet Metab. 2012 Apr;105(4):566-70. doi: 10.1016/j.ymgme.2012.01.006. Epub 2012 Jan 16.

PMID:
22300845
5.

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. doi: 10.3945/ajcn.110.009456. Epub 2011 Dec 28. Review.

6.

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U.

Mol Genet Metab. 2011;104 Suppl:S2-9. doi: 10.1016/j.ymgme.2011.08.017. Epub 2011 Aug 26. Review.

PMID:
21937252
7.

Clinical utility gene card for: Phenylketonuria.

Zschocke J, Haverkamp T, Møller LB.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14. No abstract available.

8.

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
9.

Mild hyperphenylalaninemia: to treat or not to treat.

van Spronsen FJ.

J Inherit Metab Dis. 2011 Jun;34(3):651-6. doi: 10.1007/s10545-011-9283-y. Epub 2011 Feb 24. Review.

10.

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
11.

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

Burton BK, Adams DJ, Grange DK, Malone JI, Jurecki E, Bausell H, Marra KD, Sprietsma L, Swan KT.

J Pediatr. 2011 Mar;158(3):410-5. doi: 10.1016/j.jpeds.2010.08.016.

PMID:
20884009
12.

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.

13.

ACOG Committee Opinion No. 449: Maternal phenylketonuria.

American College of Obstetricians and Gynecologists Committee on Genetics.

Obstet Gynecol. 2009 Dec;114(6):1432-3. doi: 10.1097/AOG.0b013e3181c6f93d.

PMID:
20134300
14.

Psychiatric symptoms and disorders in phenylketonuria.

Brumm VL, Bilder D, Waisbren SE.

Mol Genet Metab. 2010;99 Suppl 1:S59-63. doi: 10.1016/j.ymgme.2009.10.182.

PMID:
20123472
15.

ADHD, learning, and academic performance in phenylketonuria.

Antshel KM.

Mol Genet Metab. 2010;99 Suppl 1:S52-8. doi: 10.1016/j.ymgme.2009.09.013. Review.

PMID:
20123471
16.

Variations in genotype-phenotype correlations in phenylketonuria patients.

Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.

Genet Mol Res. 2010 Jan 5;9(1):1-8. doi: 10.4238/vol9-1gmr670.

17.

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers.

Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13.

PMID:
19800826
18.

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.

Kang TS, Wang L, Sarkissian CN, Gámez A, Scriver CR, Stevens RC.

Mol Genet Metab. 2010 Jan;99(1):4-9. doi: 10.1016/j.ymgme.2009.09.002. Epub .

19.

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ.

Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Review.

PMID:
19208488
20.

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Trefz FK, Scheible D, Götz H, Frauendienst-Egger G.

J Inherit Metab Dis. 2009 Feb;32(1):22-6. doi: 10.1007/s10545-008-0940-8. Epub 2008 Oct 30.

PMID:
18956252
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