ProfileOfResearchers

102

TÃTULO: The g.1170C > T polymorphism of the 5 ' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression-Evidence from a family study Full Text
AUTORES: Oliveira, JP ; Ferreira, S; Reguenga, C ; Carvalho, F ; Mansson, JE;
PUBLICAÇÃO: 2008, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, NÚMERO: S2

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103

TÃTULO: Evidence for selective low leukocyte enzyme activity levels associated with the G1170C > T 5 ' untranslated polymorphism of the alpha-galactosidase A gene Full Text
AUTORES: Ferreira, S; Barcelo, J; Carvalho, F ; Mansson, JE; Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29

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104

TÃTULO: Fabry disease: Worsening of hearing loss with enzyme replacement therapy Full Text
AUTORES: Carla Pinto Moura ; Soares, C; Seixas, D; Ayres Bastos, M; Pais Clemente, M; Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29

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105

TÃTULO: Frequency of 5 ' untranslated region single nucleotide polymorphisms of the alpha-Galactosidase A gene in the Portuguese population
AUTORES: Ferreira, S; Barcelo, J; Carvalho, F ; Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29

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106

TÃTULO: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.
AUTORES: Ferreira, S; Malheiro, F; Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: Human genetics, VOLUME: 121, NÚMERO: 5

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107

TÃTULO: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Full Text
AUTORES: Ferreira, S; Costa, C; Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: Human genetics, VOLUME: 121, NÚMERO: 5

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108

TÃTULO: Progressive development of microalbuminuria and proteinuria in males and females with Fabry disease Full Text
AUTORES: Ortiz, A; Oliveira, JP ; Cianciaruso, B; Waldeka, S; D.G Warnock; Wanner, C; Registry Fabry;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29

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109

TÃTULO: Relationship between chronic renal disease, blood pressure, and left ventricular hypertrophy in males and females with Fabry disease Full Text
AUTORES: Ortiz, A; Oliveira, JP ; Cianciaruso, B; Waldek, S; D.G Warnock; Wanner, C; Registry Fabry;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29

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110

TÃTULO: Staging of Fabry disease using renal biopsies Full Text
AUTORES: Oliveira, JP ;
PUBLICAÇÃO: 2007, FONTE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29, NÚMERO: SUPPL. A

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