1
TITLE: Automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry disease  Full Text
AUTHORS: Smerkous, David; Mauer, Michael; Tondel, Camilla; Svarstad, Einar; Gubler, Marie Claire; Oliveira, JP ; Sargolzaeiaval, Forough; Najafian, Behzad;
PUBLISHED: 2022, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 135, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID
2
TITLE: Fabry disease and COVID-19: International expert recommendations for management based on real-world experience  Full Text
AUTHORS: Laney, DA; Germain, DP; Oliveira, JP ; Burlina, AP; Cabrera, GH; Hong, GR; Hopkin, RJ; Niu, DM; Thomas, M; Trimarchi, H; Wilcox, WR; Politei, JM; Ortiz, A;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 132, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID
3
TITLE: Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers-Danlos Syndrome
AUTHORS: Almeida, LM; Sousa, C; Vilares, P; Fernandes, P; Amado, J; Paiva, JA ; Marinho, A; Oliveira, JP ;
PUBLISHED: 2021, SOURCE: ARCHIVOS DE BRONCONEUMOLOGIA, VOLUME: 57, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss
AUTHORS: Behzad Najafian; Camilla Tondel; Einar Svarstad; Marie Claire Gubler; Oliveira, JP ; Michael Mauer;
PUBLISHED: 2020, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 31, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID
5
TITLE: Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease
AUTHORS: Charlton, JR; Tan, WZ; Daouk, G; Teot, L; Rosen, S; Bennett, KM; Cwiek, A; Nam, S; Emma, F; Jouret, F; Oliveira, JP ; Tranebjaerg, L; Frykholm, C; Mane, S; Hildebrandt, F; Srivastava, T; Storm, T; Christensen, EI; Nielsen, R;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY, VOLUME: 319, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
6
TITLE: Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease  Full Text
AUTHORS: Pedro Castro ; Mariana Gutierres; Gilberto Pereira; Susana Ferreira ; Oliveira, JP ; Elsa Azevedo ;
PUBLISHED: 2020, SOURCE: BRAIN SCIENCES, VOLUME: 10, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
7
TITLE: Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
AUTHORS: Laney, DA; Germain, DP; Oliveira, JP ; Burlina, AP; Cabrera, GH; Hong, GR; Hopkin, RJ; Niu, DM; Thomas, M; Trimarchi, H; Wilcox, WR; Politei, JM; Ortiz, A;
PUBLISHED: 2020, SOURCE: CLINICAL KIDNEY JOURNAL, VOLUME: 13, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
8
TITLE: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
AUTHORS: Oliveira, JP ; Albina Nowak; Frederic Barbey; Marcia Torres; Jose P Nunes ; Fernando Teixeira e Costa; Fernanda Carvalho; Susana Sampaio ; Isabel Tavares ; Odete Pereira; Ana L Soares; Catia Carmona; Maria Teresa Cardoso; Iulia E Jurca Simina; Marco Spada; Susana Ferreira ; Dominique P Germain;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 18
IN MY: ORCID
9
TITLE: Use of a rare disease registry for establishing phenotypic classification of previously unassignedGLAvariants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID
10
TITLE: Fabry disease: Detection of Alu-mediated exon duplication by NGS  Full Text
AUTHORS: Martin Farr; Susana Ferreira; Arwa Al Dilaimi; Sonja Boegeholz; Alexander Goesmann; Joern Kalinowski; Cornelius Knabbe; Lothar Faber; Oliveira, JP ; Volker Rudolph;
PUBLISHED: 2019, SOURCE: MOLECULAR AND CELLULAR PROBES, VOLUME: 45
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
Page 1 of 10. Total results: 99.