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TITLE: Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases
AUTHORS: Smerkous, David; Mauer, Michael; Tondel, Camilla; Svarstad, Einar; Gubler, Marie Claire; Nelson, Robert G.; Oliveira, JP ; Sargolzaeiaval, Forough; Najafian, Behzad;
PUBLISHED: 2024, SOURCE: KIDNEY INTERNATIONAL, VOLUME: 105, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
2
TITLE: Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene
AUTHORS: Goncalves, Francisco; Lisboa Goncalves, Pedro; Quental, Rita; Fernandes, Susana; Quental, Sofia; Michel Calemard, Laurence; Goursaud, Claire; Marques, Sofia; Santos, Joana; Tavares, Isabel ; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: 60th Congress of the European-Renal-Association (ERA) in NEFROLOGIA, VOLUME: 44, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
3
TITLE: GLA insufficiency should not be called Fabry disease
AUTHORS: Houge, Gunnar; Langeveld, Mirjam; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS CrossRef
4
TITLE: Characterization of peroxidasin expression in histologically normal human adult and fetal kidney tissue
AUTHORS: Isabel Brandão; Roberto Silva; Eduardo Conde; Bárbara Gomes; Paula Sampaio; Ana Costa Braga; Jorge Reis Almeida; Inês Soares Alencastre; Oliveira, JP ;
PUBLISHED: 2023
INDEXED IN: CrossRef
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TITLE: Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community  Full Text
AUTHORS: Wanner, Christoph; Ortiz, Alberto; Wilcox, William R.; Hopkin, Robert J.; Johnson, Jack; Ponce, Elvira; Ebels, Johan T.; Batista, Julie L.; Maski, Manish; Politei, Juan M.; Martins, Ana Maria; Banikazemi, Maryam; Linhart, Ales; Mauer, Michael; Oliveira, JP ; Weidemann, Frank; Germain, Dominique P.;
PUBLISHED: 2023, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 139, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 5
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TITLE: Podocytopathy and Glomerular Basement Membrane Anomalies in Two Patients With Cubilin Gene Mutations
AUTHORS: Gomes, Sara Madureira; Igreja, Ana Isabel; Silva, Roberto; Oliveira, JP ; Pinto, Helena;
PUBLISHED: 2023, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 15, ISSUE: 2
INDEXED IN: WOS CrossRef
7
TITLE: Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report
AUTHORS: Pedro Gonçalves; Filipa Ferreira; Isabel Tavares ; Oliveira, JP ;
PUBLISHED: 2023, SOURCE: Portuguese Journal of Nephrology & Hypertension, VOLUME: 37
INDEXED IN: CrossRef: 1
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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
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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
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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: 1
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