33 documents found, page 1 of 4
Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and...
Pavlu-Pereira, H; Silva, MJ; Florindo, C; Sequeira, S; Ferreira, AC; Duarte, S; Rodrigues, AL; Janeiro, P; Oliveira, A; Gomes, D; Bandeira, ABackground: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic informatio...
Darier Disease: First Molecular Study of a Portuguese Family
Almeida, A; Lobo, ML; Moura, C; Rivera, IBackground: Darier disease (DD) is a rare autosomal dominant condition characterized by skin lesions. Additionally, a wide range of neuropsychiatric symptoms is frequently reported in DD patients. This genodermatosis relies on mutations in the ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (ATP2A2) gene, which encodes an ATPase responsible for pumping Ca2+ from the cytosol to the lumen of the ER....
Unravelling the mechanisms of PDHA2 gene expression
PinheiroA; Milagre, I; Rodrigues, E; Silva, MJ; Tavares de Almeida, I; Rivera, I
Human Pyruvate Dehydrogenase Complex Deficiency
Rivera, I; Silva, MJ; Pinheiro, AS; Faustino, I; Leandro, P; Ventura, F; Tavares de Almeida, I
Homocysteine and MTHFR polymorphisms in a population of healthy adolescents fro...
Caldeira, Araujo H.; Pimenta, A.; Ornelas, R.; Rivera, I; Castro, R.; Torres, I; Tavares, de Almeida,
PAH deficiency in Portugal
Rivera, I; Leandro, P.; Queiros, A.; Gaspar, A.; Lobo, Antunes M.; Vilarinho, L.; Tavares, de Almeida,
The Human Phenylalanine Hydroxylase Protein
Leandro, P; Nascimento, C; Leandro, J; Violante, S; Ventura, F; Silva, MJ; Rivera, I; Tavares de Almeida, I
Expression pattern of PDHA1 and PDHA2 genes in human spermatogenesis
Pinheiro, A.; Faustino, I; Silva, M. J.; Henrique, D.; Sousa, M.; Barros, A.; Tavares, de Almeida,; Rivera, I
Spectrum of galt mutations in Spain and Portugal. Seven new mutations in sevent...
Quintana, E.; Gort, L.; Moliner, S.; Gonzalez-Quereda, L.; Lopez-Hernandez, T.; Rivera, I; Santos, Leite M.; Vilarinho, L.; Briones, P.
In vitro effect of S-adenosyl homocysteine on H19 gene expression
Castro, R.; Gomes, A.; Rocha, M.; Esse, R.; Clode, N.; Graca, L. M.; Rivera, I; Blom, H. J.; Jakobs, C.; Tavares, de Almeida,