9 documents found, page 1 of 1
Indoor levels and health risk assessment of volatile organic compounds in Portu...
Slezakova, K.; Costa, C.; Valongo, C.; Teixeira, J.P.; Madureira, J.About indoor levels and health risk assessment of volatile organic compounds in Portuguese homes.
Deficiencia de glicerolcinasa: una causa metabólica de retraso global del desar...
Ribeiro, A.I.; Pinto, S.; Ayres-Pereira, I.; Vieira, A.; Valongo, C.; Passas, A.; Lopes, A.; Santos, H.La deficiencia de glicerolcinasa (GKD) es un raro trastorno recesivo ligado al X, caracterizado por la pérdida de la función del enzima glicerolcinasa (GK), que cataliza la fosforilación dietética del glicerol a glicerol-3-fosfato, necesario en la síntesis de lípidos y en la gluconeogénesis [1,2]. La pérdida de actividad enzimática conduce a una acumulación de glicerol en suero (hiperglicerolemia) y orina (glic...
Characterization of REE(+/-Ba)-bearing minerals from granitic rocks (Central Po...
Grácio, N.; Onken, C.; Santos, R.; Valongo, C.; Antunes, Isabel Margarida Horta Ribeiro; Costa, Isabel Ribeiro daDetailed characterization of REE-bearing minerals in granitoid rocks from the Idanha-a-Nova and Castelo Branco plutons (Central Portugal) and in a few metasomatic rocks associated to the Bayan Obo Fe-REE-Nb mineralization (Inner Mongolia, China) provided an interesting basis for the interpretation of the bulk-rock REE patterns. Of the REE-bearing minerals analysed in the granitoid rocks, monazite exhibits the h...
Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB...
Padeira, G.; Gomes, I.; Correia, C.; Valongo, C.; Alves, A.C.; Medeiros, A.; Bourbon, M.; Ferreira, A.C.Familial Hypercholesterolemia (FH) is the most common of all genetic hypercholesterolaemias with defects in LDLR, APOB and PCSK9 accounting for the majority of cases. However, there are other rare disorders like sitosterolaemia that can present the same phenotype. Both can cause premature atherosclerosis but have distinctive dietetic and therapeutic intervention.
Molecular picture of cobalamin C/D defects before and after newborn screening era
Nogueira, C.; Marcão, A.; Rocha, H.; Sousa, C.; Fonseca, H.; Valongo, C.; Vilarinho, L.Objective: Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expanded newborn screening. Methods: Twenty-five Portuguese CblC/D patients, 14 symptomatic and 11 identified through screening, were diagnosed using gas chromatography ...
Sitosterolémia - uma causa rara de uma situação comum
Garcia, A.M.; Padeira, G.; Conde, M.; Carvalho, R.; João, A.; Gomes, I.; Bosquet, Lucas G.; Correia, C.; Valongo, C.; Dias, A.; Medeiros, A.Introdução: A Sitosterolémia (OMIM 210250) é uma doença autossómica recessiva rara do metabolismo dos esteróis vegetais. É causada por mutações nos genes ABCG5 ou ABCG8 (2p21) que codificam as proteínas esterolina 1 e 2 do transportador ABC (ATP-binding cassette), com consequente comprometimento da excreção intestinal e biliar de esteróis e sua acumulação no sangue e tecidos. Clinicamente é caracterizada pela p...
A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalo...
Nogueira, Célia; Meschini, M.C.; Nesti, C.; Garcia, P.; Diogo, L.; Valongo, C.; Costa, R.; Videira, A.; Vilarinho, L.; Santorelli, F.M.Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorine...
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporte...
Investigação Bioquímica e Molecular na Morte Súbita do Lactente (SIDS)
Cardoso, M.; Pinheiro, J.; Pereira, C.; Sousa, C.; Nogueira, C.; Tesa, A.; Ramos, A.; Balreira, A.; Lima, C.; Valongo, C.; Couto, D.; Quelhas, D.RESUMO SIDS (Sudden Infant Death Syndrome) é a designação utilizada para definir a morte súbita do lactente, que permanece inexplicada após uma cuidadosa investigação do caso, a qual incluí a realização de autópsia, o exame do local da morte e a análise da história clínica. Devido à rápida deterioração que provocam, as doenças metabólicas constituem potenciais causas de morte súbita, quer pelas crises que ocasi...