Scriver C - Search Results

1

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. Among authors: scriver c. Mol Genet Metab. 2007 Dec;92(4):287-91. doi: 10.1016/j.ymgme.2007.09.017. Mol Genet Metab. 2007. PMID: 18036498

2

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

Levy HL, Sarkissian CN, Scriver CR. Levy HL, et al. Among authors: scriver cr. Mol Genet Metab. 2018 Aug;124(4):223-229. doi: 10.1016/j.ymgme.2018.06.002. Epub 2018 Jun 9. Mol Genet Metab. 2018. PMID: 29941359 Review.

3

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".

Scriver CR, Cole DE, Houghton SA, Levy HL, Grenier A, Laberge C. Scriver CR, et al. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6175-8. doi: 10.1073/pnas.77.10.6175. Proc Natl Acad Sci U S A. 1980. PMID: 6934544 Free PMC article.

4

Histidinaemia. Part I: Reconciling retrospective and prospective findings.

Scriver CR, Levy HL. Scriver CR, et al. J Inherit Metab Dis. 1983;6(2):51-3. doi: 10.1007/BF02338970. J Inherit Metab Dis. 1983. PMID: 6192284

5

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.

Wang L, Gamez A, Sarkissian CN, Straub M, Patch MG, Han GW, Striepeke S, Fitzpatrick P, Scriver CR, Stevens RC. Wang L, et al. Among authors: scriver cr. Mol Genet Metab. 2005 Sep-Oct;86(1-2):134-40. doi: 10.1016/j.ymgme.2005.05.012. Epub 2005 Jul 11. Mol Genet Metab. 2005. PMID: 16006165

As a test case, phenylalanine ammonia-lyase (PAL, EC 4.3.1.5) was selected for enzyme replacement therapy in phenylketonuria [C.R. Scriver, S. Kaufman, Hyperphenylalaninemia:phenylalanine Hydroxylase Deficiency. ...Chang, C.R. Scriver, A different appr …

As a test case, phenylalanine ammonia-lyase (PAL, EC 4.3.1.5) was selected for enzyme replacement therapy in phenylketonuria [C.R. …

6

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.

Sarkissian CN, Kang TS, Gámez A, Scriver CR, Stevens RC. Sarkissian CN, et al. Among authors: scriver cr. Mol Genet Metab. 2011 Nov;104(3):249-54. doi: 10.1016/j.ymgme.2011.06.016. Epub 2011 Jun 29. Mol Genet Metab. 2011. PMID: 21803624 Free PMC article.

7

Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria.

Gámez A, Wang L, Sarkissian CN, Wendt D, Fitzpatrick P, Lemontt JF, Scriver CR, Stevens RC. Gámez A, et al. Among authors: scriver cr. Mol Genet Metab. 2007 Aug;91(4):325-34. doi: 10.1016/j.ymgme.2007.04.015. Epub 2007 Jun 8. Mol Genet Metab. 2007. PMID: 17560821

8

The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

Scriver CR, Mahon B, Levy HL, Clow CL, Reade TM, Kronick J, Lemieux B, Laberge C. Scriver CR, et al. Am J Hum Genet. 1987 May;40(5):401-12. Am J Hum Genet. 1987. PMID: 3578280 Free PMC article.

9

New approaches to treat PKU: how far are we?

Blau N, Scriver CR. Blau N, et al. Mol Genet Metab. 2004 Jan;81(1):1-2. doi: 10.1016/j.ymgme.2003.09.011. Mol Genet Metab. 2004. PMID: 14728984 Review. No abstract available.

10

Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.

Waters PJ, Scriver CR, Parniak MA. Waters PJ, et al. Among authors: scriver cr. Mol Genet Metab. 2001 Jul;73(3):230-8. doi: 10.1006/mgme.2001.3198. Mol Genet Metab. 2001. PMID: 11461190

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