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Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, ...
Sousa-Santos,Francisco; Simões,Helder; Castro-Feijóo,Lidia; Rodríguez,Paloma Cabanas; Fernández-Marmiesse,Ana; Fiaño,Rebeca Saborido; Rego,TeresaSUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycem...
Date: 2018
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Origin: Oasisbr
Diagnosis of neurometabolic disorders through next generation sequencing panels...
Gouveia,Sofia; Fernández-Marmiesse,Ana; Otero,Iria; Cocho,Juan; Castiñeiras,Daisy; Fraga,José; Couce,Mª Luz
Date: 2015
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Origin: SciELO Portugal
Recessive TTN truncating mutation define a novel antenatal severe form of CAP-...
Fernández-Marmiesse,Ana; Carrascosa-Romero,M. Carmen; Roca,Iria; Gouveia,Sofia; Pico,Mª Luz Couce
Date: 2015
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Origin: SciELO Portugal
Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies
Gouveia,Sofia; Fernández-Marmiesse,Ana; Otero,Iria; Cocho,Juan; Castiñeiras,Daisy; Fraga,José; Couce,Mª Luz
Date: 2015
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Origin: SciELO Portugal