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3- Methylcrotonyl-coa Carboxylase Deficiency: Biochemical and Molecular Studies...

3-methylcrotonylglycinuria (MCG) is a disease included in the expanded newborn screening that until recently was considered a rare inherited disorder of the metabolism. In the catabolism of leucine, MCG is blocked in the fourth step due to deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase (3-MCC) (Dantas et al). The biochemical diagnosis of disability in 3-MCC is characterized by marked increase of acid...

Reducing mental health stigma and discrimination: educational interventions in ...

Reducing mental health stigma and discrimination: Educational interventions in ...

MAT I/III deficiency in Portugal: high frequency of R264H mutation in a small a...

Introduction: Methionine adenosyltransferase deficiency (MAT I/III deficiency, OMIM 250850) is an inborn error of metabolism resulting in isolated hypermethioninemia and usually inherited as an autosomal recessive trait. A dominant form has been exceptionally reported, associated with a single mutation (R264H). Methods: MAT I/III deficiency is detected by newborn screening (NBS) as a differential diagnosis of ...

3-Methylcrotonylglycinuria: a new common mutation in the Portuguese population?

Introduction: 3-Methylcrotonylglycinuria (MCG) is an inborn error of the leucine catabolism resulting from isolated biotin-insensitive deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), the enzyme converting 3-methylcrotonoyl-CoA to 3-methylglutaconyl-CoA. The metabolic phenotype characterizing MCC deficiency is the elevated excretion of the diagnostic compounds 3-methylcrotonylglycine and 3-hydroxyisovale...

Prenatal diagnosis in severe cases: a new gain in Portuguese neonatal

Introduction The expansion of the Portuguese neonatal screening since 2004, based on MS/MS technology, allows the tracing of 25 diseases in all Portuguese newborns in one single laboratory. Following this expansion, the molecular study was also implemented for most diseases, thus allowing confirmation and prenatal diagnosis in severe cases. Methods Five prenatal diagnoses were made in pregnant women who had chi...

Testing the Rio Doce as a riverine barrier in shaping the Atlantic rainforest p...

Akodon cursor occurs in dense rainforest from northern (8º S) to southern (26º S) states along the Atlantic coast of Brazil. Previous karyological and molecular data revealed two major clades, one including northern (8-15º S) and the other southern (19-26º S) populations. The center of geographic distribution (15-20º S), which included the state of Espírito Santo, was identified as a potential vicariance region...

Estudo do crescimento de borregos das raças Churra Badana e Churra da Terra Quente

O presente trabalho teve como objectivo avaliar os pesos, a diferentes idades, de borregos das raças ovinas Churras da Terra Quente e Badana. Baseou-se nos registos de pesos de 140 borregos Churros da Terra Quente e 88 da raça Churra Badana. Os borregos foram pesados ao nascimento e, posteriormente, quinzenalmente, até aos 120 dias de idade, tendo-se calculado os respectivos pesos ajustados aos 15, 30, 45, 60 e...

Monitorização da Qualidade da Água durante uma Empreitada de Dragagem do Porto ...

Avaliação das propriedades físicas e mecânicas do adobe (tijolo de terra crua)

Com a finalidade de verificar a viabilidade do tijolo de terra crua (adobe) na execução de moradias, realizou-se pesquisa para identificar as características físicas e mecânicas do solo e definição de procedimentos e métodos de produção do mesmo, estabelecendo critérios que melhorem a qualidade do produto final. O solo escolhido foi o LATOSSOLO VERMELHO - AMARELO Distrófico, que é característico da Região Sul d...