Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Agnieszka Rożdżyńska-Świątkowska"'
Autor:
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska
Publikováno v:
Diagnostics, Vol 14, Iss 17, p 1956 (2024)
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolys
Externí odkaz:
https://doaj.org/article/c3be6138faa04bbda6f81883f78fec11
Autor:
Adriana M. Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y. Wang, Paul Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100987- (2023)
Objective: This study assessed growth patterns in patients with mucopolysaccharidosis (MPS) VII before enzyme replacement therapy. Methods: Height, weight, and body mass index (BMI) measurements and Z-scores from patients from three clinical studies
Externí odkaz:
https://doaj.org/article/68199889bc9745e98000b49f745e7638
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to various tissues and org
Externí odkaz:
https://doaj.org/article/60be6c65d09c4ccaa067e90dacdf5cd0
Publikováno v:
Diagnostics, Vol 10, Iss 2, p 116 (2020)
Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of
Externí odkaz:
https://doaj.org/article/b3d48f3482a24091994f072c8724a191
Autor:
Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Rożdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Publikováno v:
Biomolecules, Vol 12, Iss 3, p 398 (2022)
Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by iso
Externí odkaz:
https://doaj.org/article/d71b8bd7fdd84fe4baf776df3cce689f
Autor:
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Katarzyna Iwanicka-Pronicka, Barbara Perkowska, Paulina Pokora, Anna Tylki-Szymańska
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100826- (2022)
Introduction: Alpha-mannosidosis (AM) is a rare autosomal recessive lysosomal storage disease which the natural history has not been exhaustively described yet. The aim of this study was to present the long-term follow-up of 12 Polish patients with A
Externí odkaz:
https://doaj.org/article/09b992e8f94b44fba03e6663511a659e
Autor:
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska‐Świątkowska, Aldona Wierzbicka‐Rucińska, Anna Tylki‐Szymańska
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 82-88 (2020)
Abstract Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or gen
Externí odkaz:
https://doaj.org/article/9d8a8d271c0949cfa1f88ce97adbbcaa
Publikováno v:
Children, Vol 8, Iss 10, p 852 (2021)
Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthro
Externí odkaz:
https://doaj.org/article/24eb019a09034d3b8a45e15e6f1f8b70
Publikováno v:
Pediatrics and Neonatology, Vol 57, Iss 3, Pp 181-187 (2016)
The objective of the study was to compare mean values for birth body length and weight between patients with mucopolysaccharidosis (MPS) and the general population. Methods: A retrospective analysis of birth anthropometric data was performed for pati
Externí odkaz:
https://doaj.org/article/7da05a0100c94557a1cd15770856ae5b
Autor:
Zbigniew Żuber, Agnieszka Jurecka, Anna Król-Zdechlikiewicz, Agnieszka Różdżyńska-Świątkowska, Anna Tylki-Szymańska
Publikováno v:
Rheumatology, Vol 52, Iss 6, Pp 354-361 (2014)
Objectives : To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology. Material and methods : In MPS type II patients (n = 7
Externí odkaz:
https://doaj.org/article/c1987f56908649468abbccb2dd77f4cb