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Anna Tylki‐Szymańska

Children's Memorial Health Institute

ORCID: 0000-0002-8935-1768

385 papers and 9.4k citations.

PubIndex Score97Top 3%How it's scored

385Publications

9.4kTotal Citations

First senior author: 1986

Top publicationsby citations

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Marieke Biegstraaten, Carla E. M. Hollak, Dominique P. Germain et al.|Orphanet Journal of Rare Diseases|2015

Cited by 345

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

Nick Dekker, Johannes M. F. G. Aerts, Laura van Dussen et al.|Blood|2011

Cited by 288

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, J. E. Wraith, Zsuzsanna Almássy et al.|Orphanet Journal of Rare Diseases|2011

Cited by 231

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Patryk Lipiński, Aleksandra Jezela‐Stanek, Karolina M. Stępień et al.|Diagnostics|2021

Cited by 24

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