2015 Victor A. McKusick Leadership Award von Scriver, Charles R.

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The PAH gene, phenylketonuria, and a paradigm shift von Scriver, Charles R.

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Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria von Sarkissian, Christineh N, Gámez, Alejandra, Wang, Lin, Charbonneau, Marilyse, Fitzpatrick, Paul, Lemontt, Jeffrey F, Zhao, Bin, Vellard, Michael, Bell, Sean M, Henschell, Carroll, Lambert, Amy, Tsuruda, Laurie, Stevens, Raymond C, Scriver, Charles R

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Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria von Levy, Harvey L., Sarkissian, Christineh N., Scriver, Charles R.

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Correction of Kinetic and Stability Defects by Tetrahydrobiopterin in Phenylketonuria Patients with Certain Phenylalanine Hydroxylase Mutations von Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C., Beutler, Ernest

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Phenylalanine hydroxylase deficiency von Mitchell, John J, Trakadis, Yannis J, Scriver, Charles R

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PAHdb 2003: What a locus-specific knowledgebase can do von Scriver, Charles R., Hurtubise, Mélanie, Konecki, David, Phommarinh, Manyphong, Prevost, Lynne, Erlandsen, Heidi, Stevens, Ray, Waters, Paula J., Ryan, Shannon, McDonald, David, Sarkissian, Christineh

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Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008 von Scriver, Charles R.

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American Pediatric Society's 2010 John Howland Award Acceptance Lecture: Some Things Considered von Scriver, Charles R

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Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis von Sarkissian, Christineh N., Scriver, Charles R., Mamer, Orval A.

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Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria von Sarkissian, Christineh N., Kang, Tse Siang, Gámez, Alejandra, Scriver, Charles R., Stevens, Raymond C.

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Converting an injectable protein therapeutic into an oral form: Phenylalanine ammonia lyase for phenylketonuria von Kang, Tse Siang, Wang, Lin, Sarkissian, Christineh N., Gámez, Alejandra, Scriver, Charles R., Stevens, Raymond C.

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Structural and Biochemical Characterization of the Therapeutic Anabaena variabilis Phenylalanine Ammonia Lyase von Wang, Lin, Gamez, Alejandra, Archer, Holly, Abola, Enrique E., Sarkissian, Christineh N., Fitzpatrick, Paul, Wendt, Dan, Zhang, Yanhong, Vellard, Michel, Bliesath, Joshua, Bell, Sean M., Lemontt, Jeffrey F., Scriver, Charles R., Stevens, Raymond C.

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FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide von van Baal, Sjozef, Kaimakis, Polynikis, Phommarinh, Manyphong, Koumbi, Daphne, Cuppens, Harry, Riccardino, Francesca, Macek, Milan, Scriver, Charles R., Patrinos, George P.

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A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism von Campeau, Philippe M., Scriver, Charles R., Mitchell, John J.

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Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics von Scriver, Charles R.

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Encomium to accompany "Of Mice and Children: Reminiscences of a Teratogeneticist" von Scriver, Charles R.

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2015 Victor A. McKusick Leadership Award 1 von Scriver, Charles R.

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Recommendations of the 2006 Human Variome Project meeting von Cotton, Richard G.H

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A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase von Sarkissian, Christineh N., Shao, Zhongqi, Blain, Francoise, Peevers, Rosalie, Su, Hongsheng, Heft, Robert, Thomas M. S. Chang, Scriver, Charles R.

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