Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Stephen I. Goodman"'
Autor:
Stephen I. Goodman
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28f2b7725f034fa92cdca70446e1d562
https://doi.org/10.1007/978-3-030-67727-5_71
https://doi.org/10.1007/978-3-030-67727-5_71
Autor:
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M Koeller, Michael Woontner, Stephen I Goodman, Diogo Onofre Gomes de Souza, Moacir Wajner
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90477 (2014)
We determined mRNA expression of the ionotropic glutamate receptors NMDA (NR1, NR2A and NR2B subunits), AMPA (GluR2 subunit) and kainate (GluR6 subunit), as well as of the glutamate transporters GLAST and GLT1 in cerebral cortex and striatum of wild
Externí odkaz:
https://doaj.org/article/a9b5c58ab51645b29375a4783bc432de
Autor:
Anna I Scott, Qin Sun, Stephen I. Goodman, Renata C. Gallagher, Suzette Huguenin, Laura Pollard
Publikováno v:
Genetics in Medicine. 20:683-691
Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive newb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d24dddb8d0240d25d6ca43a4f8a284f
https://doi.org/10.1038/gim.2018.45
https://doi.org/10.1038/gim.2018.45
Autor:
Maria Elisa Calcagnotto, Letícia Barbieri Caus, Marcelo Ganzella, Samanta Oliveira Loureiro, Diogo O. Souza, Letícia Meier, Stephen I. Goodman, David M. Koeller, Michael Woontner, Mayara Vendramin Pasquetti, Bernardo Junges, Moacir Wajner, Alexandre Umpierrez Amaral
Publikováno v:
Epilepsia. 58:1771-1781
SummaryObjectives Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78e5501bdc43c4ff0b91bb6f0d90c26a
https://doi.org/10.1111/epi.13862
https://doi.org/10.1111/epi.13862
Autor:
Michael Woontner, Stephen I. Goodman
Publikováno v:
Molecular genetics and metabolism. 127(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6275df7ebd10d6401a56689c22f7b291
https://pubmed.ncbi.nlm.nih.gov/31324527
https://pubmed.ncbi.nlm.nih.gov/31324527
Autor:
Bianca Seminotti, Guilhian Leipnitz, Eugenia Isasi, Luis Barbeito, Stephen I. Goodman, Diogo O. Souza, Silvia Olivera-Bravo, Moacir Wajner, Michael Woontner, César Augusto João Ribeiro
Publikováno v:
Molecular neurobiology. 56(1)
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc23198ef83ca6251114e5759c9e081
https://pubmed.ncbi.nlm.nih.gov/29779173
https://pubmed.ncbi.nlm.nih.gov/29779173
Autor:
Michael Woontner, Stephen I. Goodman, Moacir Wajner, Mateus Struecker da Rosa, David M. Koeller, Alexandre Umpierrez Amaral, Guilhian Leipnitz, Bianca Seminotti, Carolina Coffi Pereira, Rafael Teixeira Ribeiro
Publikováno v:
Journal of the Neurological Sciences. 344:105-113
We evaluated the antioxidant defense system and protein oxidative damage in the brain and liver of 15-day-old GCDH deficient knockout (Gcdh(-/-)) mice following an acute intraperitoneal administration of Lys (8 μmol/g). We determined reduced glutath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbcd8f52b046801a9217ec15dbec278
https://doi.org/10.1016/j.jns.2014.06.034
https://doi.org/10.1016/j.jns.2014.06.034
Autor:
Diogo O. Souza, Paulo Henrique S. Botton, Estela Natacha Brandt Busanello, David M. Koeller, Michael Woontner, Moacir Wajner, Stephen I. Goodman, Pablo Pandolfo, Letícia Ferreira Pettenuzzo
Publikováno v:
Life Sciences. 92(2):137-142
Aims The establishment of a genetic knockout murine model of glutaric acidemia type I (GAI) with complete loss of glutaryl-CoA dehydrogenase (GCDH) activity has been used to investigate the pathological mechanisms underlying neurological symptoms in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fba05ea92791ca502ee28f637f8ef26
Autor:
Lori Anne P. Schillaci, Gregory M. Enns, Charles L. Hoppel, Renata C. Gallagher, Stephen I. Goodman, Jessica Rispoli-Joines, Shawn E. McCandless, Michael Woontner, Arthur B. Zinn, Elaine B. Spector, Jirair K. Bedoyan, Carol L. Greene, Erin T. Strovel, Gunter Scharer
Publikováno v:
Molecular genetics and metabolism. 119(1-2)
Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria resulting from a functional deficiency of glutaryl-CoA dehydrogenase, encoded by GCDH. Two clinically indistinguishable diagnostic subgroups of GA-I are known; low and high ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09713d488effc06bcbc3714236f5d7c7
https://pubmed.ncbi.nlm.nih.gov/27397597
https://pubmed.ncbi.nlm.nih.gov/27397597
Autor:
Alexandre Umpierrez Amaral, Marília Danyelle Nunes Rodrigues, Moacir Wajner, André Quincozes-Santos, Ângela Zanatta, Michael Woontner, Bianca Seminotti, Stephen I. Goodman, Aline de Mello Gonçalves, Bruna Bellaver, Diogo O. Souza
Publikováno v:
Molecular neurobiology. 54(6)
Patients affected by glutaric aciduria type I (GA-I) show progressive cortical leukoencephalopathy whose pathogenesis is poorly known. In the present work, we exposed cortical astrocytes of wild-type (Gcdh +/+ ) and glutaryl-CoA dehydrogenase knockou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ce671fc91bca67a296cb10995d4f4e
https://pubmed.ncbi.nlm.nih.gov/27510504
https://pubmed.ncbi.nlm.nih.gov/27510504