Levy HL - Search Results

1

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: levy hl. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.

2

Molecular genetics of phenylketonuria and its implications.

Levy HL. Levy HL. Am J Hum Genet. 1989 Nov;45(5):667-70. Am J Hum Genet. 1989. PMID: 2573272 Free PMC article. Review. No abstract available.

3

Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994.

Koch R, Levy H, Hanley W, Matalon R, Rouse B, Trefz F, de la Cruz F. Koch R, et al. Eur J Pediatr. 1996 Jul;155 Suppl 1:S162-4. doi: 10.1007/pl00014238. Eur J Pediatr. 1996. PMID: 8828636

4

Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.

Rouse B, Matalon R, Koch R, Azen C, Levy H, Hanley W, Trefz F, de la Cruz F. Rouse B, et al. J Pediatr. 2000 Jan;136(1):57-61. doi: 10.1016/s0022-3476(00)90050-7. J Pediatr. 2000. PMID: 10636975

5

Maternal phenylketonuria: an international study.

Koch R, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Friedman E, Platt L, de la Cruz F. Koch R, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):233-9. doi: 10.1006/mgme.2000.3038. Mol Genet Metab. 2000. PMID: 11001815 Review.

6

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. Güttler F, et al. Among authors: levy hl. Pediatrics. 2003 Dec;112(6 Pt 2):1530-3. Pediatrics. 2003. PMID: 14654659

7

Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R. Levy HL, et al. Pediatrics. 2003 Dec;112(6 Pt 2):1548-52. Pediatrics. 2003. PMID: 14654663

8

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.

Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H. Waisbren SE, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):63-70. doi: 10.1016/j.ymgme.2007.05.006. Epub 2007 Jun 25. Mol Genet Metab. 2007. PMID: 17591452

9

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

Levy HL, Milanowski A, Chakrapani A, Cleary M, Lee P, Trefz FK, Whitley CB, Feillet F, Feigenbaum AS, Bebchuk JD, Christ-Schmidt H, Dorenbaum A; Sapropterin Research Group. Levy HL, et al. Lancet. 2007 Aug 11;370(9586):504-10. doi: 10.1016/S0140-6736(07)61234-3. Lancet. 2007. PMID: 17693179 Clinical Trial.

10

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.

Levy H, Burton B, Cederbaum S, Scriver C. Levy H, et al. Mol Genet Metab. 2007 Dec;92(4):287-91. doi: 10.1016/j.ymgme.2007.09.017. Mol Genet Metab. 2007. PMID: 18036498

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