Showing 1 - 14 results of 14 for search 'Patryk Lipinski', query time: 0.04s
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Anthropometric Phenotype of Patients with PMM2-CDG by Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Anna Bogdańska, Anna Tylki-Szymańska
Published 2021-09-01
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A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach by Paulina Szymańska-Rożek, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska, Agnieszka Ługowska
Published 2023-02-01
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<i>DCDC2</i>-Related Ciliopathy: Report of Six Polish Patients, Novel <i>DCDC2</i> Variant, and Literature Review of Reported Cases by Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Rafał Płoski, Joanna Pawłowska, Irena Jankowska
Published 2023-05-01
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Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy by Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska
Published 2023-04-01
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Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Class... by Małgorzata Batycka, Ewa Lange, Ewa Ehmke vel Emczyńska-Seliga, Maciej Jaworski, Maria Kobylińska, Natalia Lech, Emilia Samborowska, Patryk Lipiński, Barbara Perkowska, Paulina Pokora, Dariusz Rokicki
Published 2023-04-01
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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel <i>VPS33A</i> Variant with Comparison with Other Described Patients by Patryk Lipiński, Krzysztof Szczałuba, Piotr Buda, Ekaterina Y. Zakharova, Galina Baydakova, Agnieszka Ługowska, Agnieszka Różdzyńska-Świątkowska, Zuzanna Cyske, Grzegorz Węgrzyn, Agnieszka Pollak, Rafał Płoski, Anna Tylki-Szymańska
Published 2022-09-01
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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency by Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade
Published 2023-02-01
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