Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

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

Levy, Harvey L; Sarkissian, Christineh N; Scriver, Charles R.

Mol Genet Metab ; 124(4): 223-229, 2018 08.

Artigo em Inglês | MEDLINE | ID: mdl-29941359

2.

Recommendations of the 2006 Human Variome Project meeting.

Cotton, Richard G H; Appelbe, William; Auerbach, Arleen D; Becker, Kevin; Bodmer, Walter; Boone, D Joe; Boulyjenkov, Victor; Brahmachari, Samir; Brody, Lawrence; Brookes, Anthony; Brown, Alastair F; Byers, Peter; Cantu, Jose Maria; Cassiman, Jean-Jacques; Claustres, Mireille; Concannon, Patrick; Cotton, Richard G H; den Dunnen, Johan T; Flicek, Paul; Gibbs, Richard; Hall, Judith; Hasler, Julia; Katz, Michael; Kwok, Pui-Yan; Laradi, Sandrine; Lindblom, Annika; Maglott, Donna; Marsh, Steven; Masimirembwa, Collen Muto; Minoshima, Shinsei; de Ramirez, Ana Maria Oller; Pagon, Roberta; Ramesar, Raj; Ravine, David; Richards, Sue; Rimoin, David; Ring, Huijun Z; Scriver, Charles R; Sherry, Stephen; Shimizu, Nobuyoshi; Stein, Lincoln; Tadmouri, Ghazi Omar; Taylor, Graham; Watson, Michael.

Nat Genet ; 39(4): 433-6, 2007 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-17392799

3.

2015 Victor A. McKusick Leadership Award.

Scriver, Charles R.

Am J Hum Genet ; 98(3): 433-434, 2016 Mar 03.

Artigo em Inglês | MEDLINE | ID: mdl-26942282

4.

Phenylalanine hydroxylase deficiency.

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

Genet Med ; 13(8): 697-707, 2011 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-21555948

5.

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

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

Mol Genet Metab ; 104(3): 249-54, 2011 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-21803624

6.

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

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.

Proc Natl Acad Sci U S A ; 105(52): 20894-9, 2008 Dec 30.

Artigo em Inglês | MEDLINE | ID: mdl-19095795

7.

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

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

Mol Genet Metab ; 99(1): 4-9, 2010 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19793667

8.

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

van Baal, Sjozef; Kaimakis, Polynikis; Phommarinh, Manyphong; Koumbi, Daphne; Cuppens, Harry; Riccardino, Francesca; Macek, Milan; Scriver, Charles R; Patrinos, George P.

Nucleic Acids Res ; 35(Database issue): D690-5, 2007 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-17135191

9.

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

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

Mol Genet Metab ; 95(1-2): 11-6, 2008.

Artigo em Inglês | MEDLINE | ID: mdl-18701331

10.

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Scriver, Charles R.

J Inherit Metab Dis ; 31(5): 580-98, 2008 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-18850300

11.

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver, Charles R.

Hum Mutat ; 28(9): 831-45, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17443661

12.

Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis.

Sarkissian, Christineh N; Scriver, Charles R; Mamer, Orval A.

J Mass Spectrom ; 42(6): 811-7, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17511014

13.

American Pediatric Society's 2010 John Howland Award acceptance lecture: some things considered.

Scriver, Charles R.

Pediatr Res ; 69(6): 576-7, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21552094

14.

PAHdb 2003: what a locus-specific knowledgebase can do.

Scriver, Charles R; Hurtubise, Mélanie; Konecki, David; Phommarinh, Manyphong; Prevost, Lynne; Erlandsen, Heidi; Stevens, Ray; Waters, Paula J; Ryan, Shannon; McDonald, David; Sarkissian, Christineh.

Hum Mutat ; 21(4): 333-44, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12655543

15.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe, Orna; Dunican, Donncha; O'Neill, Charles; Bertorelle, Giorgio; Beattie, Diane; Graham, Colin; Zschocke, Johannes; Cali, Francesco; Romano, Valentino; Hrabincova, Eva; Kozak, Libor; Nechyporenko, Marina; Livshits, Ludmilla; Guldberg, Per; Jurkowska, Monika; Zekanowski, Cezary; Perez, Belen; Desviat, Lourdes Ruiz; Ugarte, Magdalena; Kucinskas, Vaidutis; Knappskog, Per; Treacy, Eileen; Naughten, Eileen; Tyfield, Linda; Byck, Susan; Scriver, Charles R; Mayne, Philip D; Croke, David T.

Hum Mutat ; 21(4): 387-93, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12655548

16.

Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist".

Scriver, Charles R.

Am J Med Genet A ; 146A(17): 2177-8, 2008 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-18698618

17.

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Sarkissian, Christineh N; Gamez, Alejandra; Scott, Patrick; Dauvillier, Jerome; Dorenbaum, Alejandro; Scriver, Charles R; Stevens, Raymond C.

JIMD Rep ; 5: 59-70, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-23430918

18.

The last day of the past is the first day of the future: Transitional care for genetic patients.

Scriver, Charles R; Lee, Philip J.

Am J Med ; 117(8): 615-7, 2004 Oct 15.

Artigo em Inglês | MEDLINE | ID: mdl-15465513

19.

The human genome project will not replace the physician.

Scriver, Charles R.

CMAJ ; 171(12): 1461-4, 2004 Dec 07.

Artigo em Inglês | MEDLINE | ID: mdl-15583188

20.

Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.

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.

J Mol Biol ; 380(4): 623-35, 2008 Jul 18.

Artigo em Inglês | MEDLINE | ID: mdl-18556022

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

Recommendations of the 2006 Human Variome Project meeting.

2015 Victor A. McKusick Leadership Award.

Phenylalanine hydroxylase deficiency.

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

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

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

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

The PAH gene, phenylketonuria, and a paradigm shift.

Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis.

American Pediatric Society's 2010 John Howland Award acceptance lecture: some things considered.

PAHdb 2003: what a locus-specific knowledgebase can do.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Encomium to accompany "Of mice and children: reminiscences of a teratogeneticist".

Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

The last day of the past is the first day of the future: Transitional care for genetic patients.

The human genome project will not replace the physician.

Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.