Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Daniel Fantozzi Garcia"'
Autor:
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded
Externí odkaz:
https://doaj.org/article/2039cf41956a41fdbfad39b064da9a4f
Autor:
Daniel Fantozzi Garcia, Ticiano G. Oliveira, Greice A. Molfetta, Luiz V. Garcia, Cristiane A. Ferreira, Adriana A. Marques, Wilson Araujo Silva Jr.
Publikováno v:
Genetics and Molecular Biology, Vol 34, Iss 1, Pp 40-44 (2011)
Butyrylcholinesterase (BChE) is a plasma enzyme that catalyzes the hydrolysis of choline esters, including the muscle-relaxant succinylcholine and mivacurium. Patients who present sustained neuromuscular blockade after using succinylcholine usually c
Externí odkaz:
https://doaj.org/article/d286a100e4c3488cb676cd20ec6d45da
Autor:
Daniel Fantozzi Garcia
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
A galactosemia clássica ou tipo I (GC) é um erro inato do metabolismo da galactose causada pela deficiência da enzima galactose-1-fosfato uridiltransferase (GALT). É transmitida como uma doença autossômica recessiva e é tipicamente caracteriza
Autor:
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Ida Vanessa Döederlein Schwartz, Veronica Cornejo, Valerie Hamilton, Gabriela Castro, Ester Simon Borges, José Simon Camelo Junior
Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d7548a87fb5207e1399e81fea8ee780
https://doi.org/10.21203/rs.2.18080/v1
https://doi.org/10.21203/rs.2.18080/v1
Autor:
Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Renata Lúcia Leite Ferreira de Lima, Valmir Machado de Melo Filho, Edna Lúcia Souza, Daniel Fantozzi Garcia, Lorena Lemos de Castro, Regina Terse-Ramos
Publikováno v:
Molecular biology reports. 45(6)
Knowledge of the genetic profile of Cystic Fibrosis (CF) contributes to a better understanding of the genotype/phenotype relationship, particularly in mixed populations such as in Brazil. To describe clinical data of CF patients with rare or not yet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc14dadd69b21653dcf57b8b4220fc3c
https://pubmed.ncbi.nlm.nih.gov/30232781
https://pubmed.ncbi.nlm.nih.gov/30232781
Autor:
Daniel Fantozzi Garcia
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
A galactosemia clássica ou tipo I (GC) é um erro inato do metabolismo da galactose causada pela deficiência da enzima galactose-1-fosfato uridiltransferase (GALT). É transmitida como uma doença autossômica recessiva e é tipicamente caracteriza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f45bc04378bf5cb4cda9d5bcb9e2238