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Clinical,biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene |
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| Authors: | Sitta Angela Guerreiro Gilian de Moura Coelho Daniella da Rocha Vitoria Volfart dos Reis Bianca Gomes Sousa Carmen Vilarinho Laura Wajner Moacir Vargas Carmen Regla |
| Affiliation: | 1.Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil ;2.Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul, Ipiranga, 2752, 90610-000, Porto Alegre, RS, Brazil ;3.Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Alexandre Herculano, 321, 4000-055, Porto, Portugal ;4.Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal de Rio Grande do Sul, Ramiro Barcelos, 2600, Porto Alegre, RS, 90035-003, Brazil ; |
| Abstract: | Metabolic Brain Disease - Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this... |
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