João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 109



21
TITLE: A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients  Full Text
AUTHORS: Robert J Hopkin; Dominique P Germain; Daniel G Bichet; Daniel J Gruskin; Roberta M Lemay; Oliveira, JP ; Juan M Politei; Christoph Wanner; William R Wilcox; Han Wook Yoo; David G Warnock;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
22
TITLE: European expert consensus statement on therapeutic goals in Fabry disease  Full Text
AUTHORS: Christoph Wanner; Michael Arad; Ralf Baron; Alessandro Burlina; Perry M Elliott; Ulla Feldt Rasmussen; Victor V Fomin; Dominique P Germain; Derralynn A Hughes; Ana Jovanovic; Ilkka Kantola; Ales Linhart; Renzo Mignani; Lorenzo Monserrat; Mehdi Namdar; Albina Nowak; Oliveira, JP ; Alberto Ortiz; Maurizio Pieroni; Marco Spada; Anna Tylki Szymanska; Camilla Tondel; Miguel Viana Baptista; Frank Weidemann; Max J Hilz; ...More
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 124, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 121
IN MY: ORCID | CIÊNCIAVITAE
23
TITLE: Novel missense LCAT gene mutation associated with an atypical phenotype of familial LCAT deficiency in two portuguese brothers
AUTHORS: Castro Ferreira, I; Carmo, R; Silva, SE; Corrêa, O; Fernandes, S; Sampaio, S ; Pedro, RP; Praça, A; Oliveira, JP ;
PUBLISHED: 2018, SOURCE: JIMD Reports, VOLUME: 40
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID | CIÊNCIAVITAE
24
TITLE: A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry  Full Text
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Daniel J Gruskin; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
25
TITLE: Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar Sao Joao Neurogenetics Group  Full Text
AUTHORS: Monteiro, A; João Massano ; Leão, M; Garrett, C; Carla Pinto Moura ; Azevedo, E ; Guimarães, J; Oliveira, JP ; Castro, P;
PUBLISHED: 2017, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 30, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
26
TITLE: Unrecognized Fibrinogen A alpha-Chain Amyloidosis: Results From Targeted Genetic Testing
AUTHORS: Tavares, I; Oliveira, JP ; Pinho, A; Moreira, L; Rocha, L; Santos, J; Pinheiro, J; Costa, PP ; Lobato, L;
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF KIDNEY DISEASES, VOLUME: 70, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 8 Handle
IN MY: ORCID | CIÊNCIAVITAE
27
28
TITLE: Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry
AUTHORS: Alberto Ortiz; Ademola Abiose; Daniel G Bichet; Gustavo Cabrera; Joel Charrow; Dominique P Germain; Robert J Hopkin; Ana Jovanovic; Ales Linhart; Sonia S Maruti; Michael Mauer; Oliveira, JP ; Manesh R Patel; Juan Politei; Stephen Waldek; Christoph Wanner; Han Wook Yoo; David G Warnock;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 97
IN MY: ORCID | CIÊNCIAVITAE
29
TITLE: Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis  Full Text
AUTHORS: Linda van der Tol; Einar Svarstad; Alberto Ortiz; Camilla Tondel; Oliveira, JP ; Liffert Vogt; Stephen Waldek; Derralynn A Hughes; Robin H Lachmann; Wim Terryn; Carla E Hollak; Sandrine Florquin; Marius van den Bergh Weerman; Christoph Wanner; Michael L West; Marieke Biegstraaten; Gabor E Linthorst;
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 46
IN MY: ORCID | CIÊNCIAVITAE
30
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. Collagen type IV-related nephropathies in Portugal  Full Text
AUTHORS: Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura ; Mendonca, L; Carvalho, F ; Pestana, M ; Alves, S; Carvalho, F ; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID | CIÊNCIAVITAE
Page 3 of 11. Total results: 109.

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