6 documents found, page 1 of 1
Pediatric Familial Hypercholesterolaemia
Abrantes, L.B.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Ferreira, A.C.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.
Characterization of pediatric patients from Portuguese FH study
Abrantes, LB.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.The Portuguese FH Study (PFHS) started in 1999. The aim of the PFHS is to identify the cause of dyslipidemia in patients with a clinical diagnosis of FH. To date, 452 pediatric patients were referred to us, 288 of which are index patients. The aim of this study was to analyse the lipid profile and molecular diagnosis of children recruited for the PFHS.
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hy...
Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Cortez-Pinto, H.; Bourbon, M.Highlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder...
Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipas...
Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaAims: Lisosomal Acid Lipase Deficiency (LALD), historical known as Cholesterol Ester Storage Disease (CESD), is an autosomal lisosomal storage recessive disorder and an unrecognized cause of dyslipidaemia. Mutations in LIPA gene are the underlying cause of LALD, being a mutation in the splice site of exon 8 the most common cause of the disease. Patients with LALD present dyslipidaemia and altered liver function...
Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the youn...
Gaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.
Diagnóstico genético da diabetes tipo MODY (Maturity-onset diabetes of the youn...
Gaspar, G.; Seuanes, F.; Duarte, J.S.; Rodrigues, D.; Moreno, C.; Gouveia, S.; Lobarinhas, G.; Bogalho, A.P.; Agapito, A.; Fonseca, F.; Castro, S.V.