Search Results - "Balreira, A."

Seroprevalence of heartworm (Dirofilaria immitis) in feline and canine hosts from central and northern Portugal by Vieira, L, Silvestre-Ferreira, A C, Fontes-Sousa, A P, Balreira, A C, Morchón, R, Carretón, E, Vilhena, H, Simón, F, Montoya-Alonso, J A

“…Dirofilaria immitis is endemic in Portugal. Several studies have reported the presence of canine heartworm disease, although no previous studies on feline…”
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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients by Cardoso, M.L., Barbosa, M., Serra, D., Martins, E., Fortuna, A., Reis-Lima, M., Bandeira, A., Balreira, A., Marques, F.

“…In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation…”
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Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7 by Cardoso, M.L., Balreira, A., Martins, E., Nunes, L., Cabral, A., Marques, M., Lima, M. Reis, Marques, J.S., Medeira, A., Cordeiro, I., Pedro, S., Mota, M.C., Dionisi-Vici, C., Santorelli, F.M., Jakobs, C., Clayton, P.T., Vilarinho, L.

“…Smith–Lemli–Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital…”
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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome by Balreira, Andrea, Gaspar, Paulo, Caiola, Daniel, Chaves, João, Beirão, Idalina, Lima, José Lopes, Azevedo, Jorge Eduardo, Miranda, Maria Clara Sá

“…The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic…”
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Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model by Balreira, Andrea, Lacerda, Lúcia, Miranda, Clara Sá, Arosa, Fernando A.

“…Summary Gaucher disease (GD) is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase (GluCerase) that leads to glucosylceramide…”
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