Search Results - "Coutinho, MF"

First occurrence of the Asian Clam Corbicula fluminae (Bivalvia: Corbiculidae) in the Paranoá Lake, Brasília, Br by Rodrigues, JCA, Pires-Junior, OR, Coutinho, MF, Martins-Silva, MJ

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Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking by Coutinho, M.F., Lacerda, L., Pinto, E., Ribeiro, H., Macedo-Ribeiro, S., Castro, L., Prata, M.J., Alves, S.

“…The newly‐synthesized lysosomal enzymes travel to the trans‐Golgi network (TGN) and are then driven to the acidic organelle. While the best‐known pathway for…”
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Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations by Encarnação, M, Lacerda, L, Costa, R, Prata, MJ, Coutinho, MF, Ribeiro, H, Lopes, L, Pineda, M, Ignatius, J, Galvez, H, Mustonen, A, Vieira, P, Lima, MR, Alves, S

“…Mucolipidosis II (ML II) and mucolipidosis III (ML III) are diseases in which the activity of the uridine diphosphate (UDP)‐N‐acetylglucosamine:lysosomal…”
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Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients by Coutinho, MF, Lacerda, L, Macedo-Ribeiro, S, Baptista, E, Ribeiro, H, Prata, MJ, Alves, S

“…Coutinho MF, Lacerda L, Macedo‐Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S. Lysosomal multienzymatic complex‐related diseases: a genetic study among…”
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Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity by Coutinho, MF, Encarnação, M, Gomes, R, da Silva Santos, L, Martins, S, Sirois-Gagnon, D, Bargal, R, Filocamo, M, Raas-Rothschild, A, Tappino, B, Laprise, C, Cury, GK, Schwartz, IV, Artigalás, O, Prata, MJ, Alves, S

“…Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois‐Gagnon D, Bargal R, Filocamo M, Raas‐Rothschild A, Tappino B, Laprise C, Cury GK,…”
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Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene by Coutinho, MF, Lacerda, L, Prata, MJ, Ribeiro, H, Lopes, L, Ferreira, C, Alves, S

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Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula by Mangas, M, Nogueira, C, Prata, MJ, Lacerda, L, Coll, MJ, Soares, G, Ribeiro, G, Amaral, O, Ferreira, C, Alves, C, Coutinho, MF, Alves, S

“…Mucopolysaccharidosis type IIIB (Sanfilippo B disease) is a rare autosomal recessive disorder caused by defective α‐N‐acetylglucosaminidase (NAGLU). We…”
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Long-term follow-up of central serous retinopathy in 150 patients by CASTRO-CORREIA, J, COUTINHO, M. F, ROSAS, V, MAIA, J

“…To study the evolution of the retinal pigment epithelial lesions in the central serous retinopathy, the authors studied 150 patients with ages between 20 and…”
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Uveitis in northern Portugal by Palmares, J, Coutinho, M F, Castro-Correia, J

“…During the past four years 450 patients (247 female - mean age 36 years and 203 male - mean age 34 years) with intraocular inflammation were evaluated using…”
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Age-related changes in cancellous bone structure. A two-dimensional study in the transiliac and iliac crest biopsy sites by Birkenhäger-Frenkel, D H, Courpron, P, Hüpscher, E A, Clermonts, E, Coutinho, M F, Schmitz, P I, Meunier, P J

“…In 94 pairs of large sections of normal iliac bone (53 men, 41 women, aged 20-80 years) we confirmed trabecular bone area (B.Ar) and the mean number of…”
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