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Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo...

O hipotiroidismo congénito (HC) presente em cerca de 1:4000 recém-nascidos é considerado uma das principais causas, preveníveis, de atraso mental em crianças. O rastreio universal do HC realizado através do Programa Nacional de Diagnóstico Precoce, implementado em Portugal desde 1985, tem resultado num desenvolvimento normal da maioria das crianças com hipotiroidismo. Os defeitos congénitos da tiróide podem ser...

Complex III deficiency in a Portuguese family: expanding the clinical phenotype

Biochemical data as important clues for diagnosis of SUCLA2 defects

MPV17: fatal hepatocerebral presentation

A novel SUCLA2 mutation in a Portuguese patient

Molecular characterization of Methylmalonyl CoA mutase deficiency in patients i...

Methylmalonyl CoA mutase (MCM) deficiency due to mutations in MUT gene is a rare metabolic disorder with autosomal recessive inheritance. Based on the complete or partial absence of functional apoenzyme, two distinct biochemical phenotypes can be associated with MCM deficiency: mut0 and mut- forms, respectively. Patients presenting the mut0 form often develop, already in the first days of live, severe clinical...

Identification of a novel TTC19 mutation in a Portuguese family with complex II...

Publicado em: Livro de abstracts do congresso UMDF - 2012 ; Defects of mitochondrial complex III (CIII) are a relatively rare cause of mitochondrial dysfunction. CIII or ubiquinol-cytochrome c reductase is the third component of the mitochondrial respiratory chain and catalyzes the electrons transfer from reduced coenzyme Q to cytochrome c and is composed of 11 subunits; one encoded by mitochondrial DNA (MT-CY...

Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Por...

Publicado em: Livro de abstracts do congresso LIMPE_DISMOV 2012 ; Introduction: Defects of mitochondrial complex III (CIII) are a relatively rare cause of mitochondrial dysfunction. The complex catalyzes the electron transfer from reduced coenzyme Q to cytochrome c and is composed of 11 subunits, one of which (MT-CYB) is mtDNA encoded. Mutations in MT-CYB and in assembly factor BCS1L account for the vast major...

A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria

Livro de abstracts da 16ª reunião da SPGH 2012 ; Introduction Succinyl CoA synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and ATP or GTP from succinyl-CoA and ADP in the tricarboxylic acid cycle (TCA). This enzyme is made up of two subunits, α and β, encoded by SUCLG1 and SUCLA2, respectively. The clinical features of patients with mutations in SUCLA2 include ea...

Molecular investigation of pediatric Portuguese patients with sensorineural hea...

Livro de abstracts da 16ª reunião da SPGH - 2012 ; Introduction Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect in research and clinical practice for SNHL. One in 1000 children is born with bilateral SNHL, and 50-70% of them have monogenic causes for their deafness. Hereditary hearing loss can be classified into syndromic and nonsyndromic ...