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Anna Tylki-Szymańska
Researcher at Memorial Hospital of South Bend
Publications - 281
Citations - 7066
Anna Tylki-Szymańska is an academic researcher from Memorial Hospital of South Bend. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 40, co-authored 262 publications receiving 6023 citations. Previous affiliations of Anna Tylki-Szymańska include University of Gdańsk.
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Journal ArticleDOI
Therapeutic goals in the treatment of Gaucher disease
Gregory M. Pastores,Neal J. Weinreb,Hans Aerts,Generoso Andria,Timothy M. Cox,Manuel Giralt,Gregory A. Grabowski,Pramod K. Mistry,Anna Tylki-Szymańska +8 more
TL;DR: Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition and an evidence-based consensus on contemporary therapeutic goals is obtained to arrive at a comprehensive guide to individualized management.
Journal ArticleDOI
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten,Reynir Arngrímsson,Frédéric Barbey,Lut Boks,Franco Cecchi,Patrick Deegan,Ulla Feldt-Rasmussen,Tarekegn Geberhiwot,Dominique P. Germain,Christian J. Hendriksz,Derralynn Hughes,Ilkka Kantola,Nesrin Karabul,Christine Lavery,Gabor E. Linthorst,Atul Mehta,Erica van de Mheen,João Paulo Oliveira,Rossella Parini,Uma Ramaswami,Michael A. Rudnicki,Andreas L. Serra,Claudia Sommer,Gere Sunder-Plassmann,Einar Svarstad,Annelies Sweeb,Wim Terryn,Anna Tylki-Szymańska,Camilla Tøndel,Bojan Vujkovac,Frank Weidemann,Frits A. Wijburg,Peter Woolfson,Carla E. M. Hollak +33 more
TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.
Journal ArticleDOI
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Robert J. Hopkin,Robert J. Hopkin,John J. Bissler,John J. Bissler,Maryam Banikazemi,Lorne A. Clarke,Christine M. Eng,Dominique P. Germain,Roberta Lemay,Anna Tylki-Szymańska,William R. Wilcox +10 more
TL;DR: Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients, and many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life.
Journal ArticleDOI
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Nick Dekker,Laura van Dussen,Carla E. M. Hollak,Herman S. Overkleeft,Saskia Scheij,Karen Ghauharali,Mariëlle J. van Breemen,Maria J. Ferraz,Johanna E. M. Groener,Mario Maas,Frits A. Wijburg,Dave Speijer,Anna Tylki-Szymańska,Pramod K. Mistry,Rolf G. Boot,Johannes M. F. G. Aerts +15 more
TL;DR: The findings show that plasma glucosylsphingosine can qualify as a biomarker for type 1 Gaucher disease, but that further investigations are warranted regarding its relationship with clinical manifestations of Gauchers disease.
Journal ArticleDOI
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa,Zsuzsanna Almassy,Michael Beck,Olaf Bodamer,Iain A. Bruce,Linda De Meirleir,Nathalie Guffon,Encarna Guillén-Navarro,Pauline Hensman,Simon Jones,Wolfgang Kamin,Wolfgang Kamin,Christoph Kampmann,Christina Lampe,Christine Lavery,Elisa Leão Teles,Bianca Link,Allan M. Lund,Gunilla Malm,Susanne Pitz,M P Rothera,Catherine Stewart,Anna Tylki-Szymańska,Ans T. van der Ploeg,Robert W.M. Walker,Jiri Zeman,James E. Wraith +26 more
TL;DR: In this paper, the authors present an overview of how to recognise, diagnose, and care for patients with MPS II, which is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase.