Charles R. Scriver - Publications, H-index & Citations

Charles R. Scriver

McGill University

59H指数

340论文数

1.2W被引数

收录论文 29

发表时间

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec

MOLECULAR GENETICS AND METABOLISM

IF3.5

2012-09-01

103

PREAI

Larochelle, Jean; Alvarez, Fernando; Bussieres, Jean-Francois; Chevalier, Isabelle; Dallaire, Louis; Dubois, Josee; Faucher, Frederic; Fenyves, Daphna; Goodyer, Paul; Grenier, Andre; Holme, Elisabeth; Laframboise, Rachel; Lambert, Marie; Lindstedt, Sven; Maranda, Bruno; Melancon, Serge; Merouani, Aicha; Mitchell, John; Parizeault, Guy; Pelletier, Luc; Phan, Veronique; Rinaldo, Piero; Scott, C. Ronald; Scriver, Charles; Mitchell, Grant A.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-11-01

OAAI

Sarkissian, Christineh N.; Kang, Tse Siang; Gamez, Alejandra; Scriver, Charles R.; Stevens, Raymond C.

Phenylalanine hydroxylase deficiency

GENETICS IN MEDICINE

IF6.2

2011-08-01

217

OAAI

Mitchell, John J.; Trakadis, Yannis J.; Scriver, Charles R.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-01-01

OAAI

Kang, Tse Siang; Wang, Lin; Sarkissian, Christineh N.; Gamez, Alejandra; Scriver, Charles R.; Stevens, Raymond C.

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2008-12-30

106

OAAI

Sarkissian, Christineh N.; Gamez, 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.

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism 先天性代谢错误治疗效果的25年纵向分析

MOLECULAR GENETICS AND METABOLISM

IF3.5

2008-09-01

PREAI

Campeau, Philippe M.; Scriver, Charles R.; Mitchell, John J.

Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment

MOLECULAR GENETICS AND METABOLISM

IF3.5

2007-12-01

PREAI

Levy, Harvey; Burton, Barbara; Cederbaum, Stephen; Scriver, Charles

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2007-08-01

PREAI

Gamez, Alejandra; Wang, Lin; Sarkissian, Christineh N.; Wendt, Dan; Fitzpatrick, Paul; Lemontt, Jeffrey F.; Scriver, Charles R.; Stevens, Raymond C.

PhenCode:: Connecting ENCODE data with mutations and phenotype PhenCode:: 将编码数据与突变和表型连接起来

HUMAN MUTATION

IF3.7

2007-01-01

OAAI

Giardine, Belinda; Riemer, Cathy; Hefferon, Tim; Thomas, Daryl; Hsu, Fan; Zielenski, Julian; Sang, Yunhua; Elnitski, Laura; Cutting, Garry; Trumbower, Heather; Kern, Andrew; Kuhn, Robert; Patrinos, George P.; Hughes, Jim; Higgs, Doug; Chui, David; Scriver, Charles; Phommarinh, Manyphong; Patnaik, Santosh K.; Blumenfeld, Olga; Gottlieb, Bruce; Vihinen, Mauno; Valiaho, Jouni; Kent, Jim; Miller, Webb; Hardison, Ross C.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2005-09-01

OAAI

Wang, L; Gamez, A; Sarkissian, CN; Straub, M; Patch, MG; Won Han, G; Striepeke, S; Fitzpatrick, P; Scriver, CR; Stevens, RC

Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria

MOLECULAR THERAPY

IF12

2005-06-01

OAAI

Gámez, A; Sarkissian, CN; Wang, L; Kim, W; Straub, M; Patch, MG; Chen, L; Striepeke, S; Fitzpatrick, P; Lemontt, JF; O'Neill, C; Scriver, CR; Stevens, RC

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2004-11-19

168

OAAI

Erlandsen, H; Pey, AL; Gámez, A; Pérez, B; Desviat, LR; Aguado, C; Koch, R; Surendran, S; Tyring, S; Matalon, R; Scriver, CR; Ugarte, M; Martínez, A; Stevens, RC

PAHdb 2003:: What a locus-specific knowledgebase can do

HUMAN MUTATION

IF3.7

2003-03-19

131

OAAI

Scriver, CR; Hurtubise, M; Konecki, D; Phommarinh, M; Prevost, L; Erlandsen, H; Stevens, R; Waters, PJ; Ryan, S; McDonald, D; Sarkissian, C

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

HUMAN MUTATION

IF3.7

2003-03-19

PREAI

Tighe, O; Dunican, D; O'Neill, C; Bertorelle, G; Beattie, D; Graham, C; Zschocke, J; Cali, F; Romano, V; Hrabincova, E; Kozak, L; Nechyporenko, M; Livshits, L; Guldberg, P; Jurkowska, M; Zekanowski, C; Perez, B; Desviat, LR; Ugarte, M; Kucinskas, V; Knappskog, P; Treacy, E; Naughten, E; Tyfield, L; Byck, S; Scriver, CR; Mayne, PD; Croke, DT

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2001-07-01

PREAI

Waters, PJ; Scriver, CR; Parniak, MA

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype, (vol 69, pg 101, 2000)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2001-01-01

OAAI

Waters, PJ; Parniak, MA; Akerman, BR; Scriver, CR