Publications by authors named "Charles Scriver"

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

Mol Genet Metab· August 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
2
2015 Victor A. McKusick Leadership Award.
Charles R Scriver

Am J Hum Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
Christineh N Sarkissian, Alejandra Gamez, Patrick Scott, Jerome Dauvillier, Alejandro Dorenbaum, Charles R Scriver

JIMD Rep· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, Isabelle Chevalier, Louis Dallaire, Charles Scriver

Mol Genet Metab· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.
Christineh N Sarkissian, Tse Siang Kang, Alejandra Gámez, Charles R Scriver, Raymond C Stevens

Mol Genet Metab· November 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenylalanine hydroxylase deficiency.
John J Mitchell, Yannis J Trakadis, Charles R Scriver

Genet Med· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
American Pediatric Society's 2010 John Howland Award acceptance lecture: some things considered.
Charles R Scriver

Pediatr Res· June 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.
Tse Siang Kang, Lin Wang, Christineh N Sarkissian, Alejandra Gámez, Charles R Scriver

Mol Genet Metab· January 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria.
Christineh N Sarkissian, Alejandra Gámez, Lin Wang, Marilyse Charbonneau, Paul Fitzpatrick, Charles R Scriver

Proc Natl Acad Sci U S A· December 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.
Philippe M Campeau, Charles R Scriver, John J Mitchell

Mol Genet Metab· November 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.
Charles R Scriver

J Inherit Metab Dis· October 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist".
Charles R Scriver

Am J Med Genet A· September 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.
Lin Wang, Alejandra Gamez, Holly Archer, Enrique E Abola, Christineh N Sarkissian, Charles R Scriver

J Mol Biol· July 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment.
Harvey Levy, Barbara Burton, Stephen Cederbaum, Charles Scriver

Mol Genet Metab· December 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The PAH gene, phenylketonuria, and a paradigm shift.
Charles R Scriver

Hum Mutat· September 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria.
Alejandra Gámez, Lin Wang, Christineh N Sarkissian, Dan Wendt, Paul Fitzpatrick, Charles R Scriver

Mol Genet Metab· August 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PhenCode: connecting ENCODE data with mutations and phenotype.
Belinda Giardine, Cathy Riemer, Tim Hefferon, Daryl Thomas, Fan Hsu, Charles Scriver

Hum Mutat· June 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Q
Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis.
Christineh N Sarkissian, Charles R Scriver, Orval A Mamer

J Mass Spectrom· June 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recommendations of the 2006 Human Variome Project meeting.
Richard G H Cotton, , William Appelbe, Arleen D Auerbach, Kevin Becker, Charles R Scriver

Nat Genet· April 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
Sjozef van Baal, Polynikis Kaimakis, Manyphong Phommarinh, Daphne Koumbi, Harry Cuppens, Charles R Scriver

Nucleic Acids Res· January 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
Charles R Scriver

Community Genet· October 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria.
Lin Wang, Alejandra Gamez, Christineh N Sarkissian, Mary Straub, Marianne G Patch, Charles R Scriver

Mol Genet Metab· January 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria.
Alejandra Gámez, Christineh N Sarkissian, Lin Wang, Woomi Kim, Mary Straub, Charles R Scriver

Mol Ther· June 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The human genome project will not replace the physician.
Charles R Scriver

CMAJ· December 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Heidi Erlandsen, Angel L Pey, Alejandra Gámez, Belén Pérez, Lourdes R Desviat, Charles R Scriver

Proc Natl Acad Sci U S A· November 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis