ProfileOfResearchers

102

TITLE: 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
AUTHORS: Oliveira, JP ; Ferreira, S; Reguenga, C ; Carvalho, F ; Mansson, JE;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2

INDEXED IN:

Scopus

WOS

CrossRef: 17

IN MY:

ORCID |

103

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

INDEXED IN:

WOS

IN MY:

ORCID |

104

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

INDEXED IN:

WOS

IN MY:

ORCID |

105

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

INDEXED IN:

WOS

IN MY:

ORCID |

106

TITLE: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.
AUTHORS: Ferreira, S; Malheiro, F; Oliveira, JP ;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5

INDEXED IN:

Scopus

IN MY:

ORCID |

107

TITLE: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Full Text
AUTHORS: Ferreira, S; Costa, C; Oliveira, JP ;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5

INDEXED IN:

Scopus

IN MY:

ORCID |

108

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

INDEXED IN:

WOS

IN MY:

ORCID |

109

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

INDEXED IN:

WOS

IN MY:

ORCID |

110

TITLE: Staging of Fabry disease using renal biopsies Full Text
AUTHORS: Oliveira, JP ;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29, ISSUE: SUPPL. A

INDEXED IN:

Scopus

WOS

CrossRef: 6

IN MY:

ORCID |