Koch R - Search Results

1

Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence.

Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Enns GM, et al. Among authors: koch r. Mol Genet Metab. 2010 Oct-Nov;101(2-3):99-109. doi: 10.1016/j.ymgme.2010.05.017. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20678948 Review.

2

Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review.

Brumm VL, Azen C, Moats RA, Stern AM, Broomand C, Nelson MD, Koch R. Brumm VL, et al. Among authors: koch r. J Inherit Metab Dis. 2004;27(5):549-66. doi: 10.1023/b:boli.0000042985.02049.ff. J Inherit Metab Dis. 2004. PMID: 15669671

3

Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.

Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, Eisensmith RC, Packman S. Enns GM, et al. Among authors: koch r. Pediatr Res. 1999 Nov;46(5):594-602. doi: 10.1203/00006450-199911000-00017. Pediatr Res. 1999. PMID: 10541324

4

Psychosocial issues and outcomes in maternal PKU.

Koch R, Trefz F, Waisbren S. Koch R, et al. Mol Genet Metab. 2010;99 Suppl 1:S68-74. doi: 10.1016/j.ymgme.2009.10.014. Mol Genet Metab. 2010. PMID: 20123474

5

Tetrahydrobiopterin and maternal PKU.

Koch R, Moseley K, Guttler F. Koch R, et al. Mol Genet Metab. 2005 Dec;86 Suppl 1:S139-41. doi: 10.1016/j.ymgme.2005.09.004. Mol Genet Metab. 2005. PMID: 16338627

6

Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.

Koch R, Moseley K, Ning J, Romstad A, Guldberg P, Guttler F. Koch R, et al. Mol Genet Metab. 1999 Jun;67(2):148-55. doi: 10.1006/mgme.1999.2863. Mol Genet Metab. 1999. PMID: 10356314

7

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.

8

Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment.

Koch R, Moseley KD, Yano S, Nelson M Jr, Moats RA. Koch R, et al. Mol Genet Metab. 2003 Jun;79(2):110-3. doi: 10.1016/s1096-7192(03)00078-7. Mol Genet Metab. 2003. PMID: 12809641 Clinical Trial.

9

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.

Matalon R, Michals-Matalon K, Koch R, Grady J, Tyring S, Stevens RC. Matalon R, et al. Among authors: koch r. Mol Genet Metab. 2005 Dec;86 Suppl 1:S17-21. doi: 10.1016/j.ymgme.2005.06.024. Epub 2005 Sep 6. Mol Genet Metab. 2005. PMID: 16143554 Clinical Trial.

10

Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene.

Koch R, Güttler F, Guldberg P, Rouse B. Koch R, et al. Mol Genet Metab. 1998 Feb;63(2):148-50. doi: 10.1006/mgme.1997.2619. Mol Genet Metab. 1998. PMID: 9562969

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