Výsledky vyhledávání - "Agnieszka Sobczyńska Tomaszewska"

Akademický článek

Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice

Autor: Ewa Więsik-Szewczyk, Arkadiusz Zegadło, Agnieszka Sobczyńska-Tomaszewska, Marcelina Korzeniowska, Karina Jahnz-Rózyk

Publikováno v: Frontiers in Medicine, Vol 11 (2024)

Lung involvement is not widely recognized as a complication of auto-inflammatory diseases. We present a broad approach to diagnose a severe form of autoinflammatory syndrome in an adult male patient. A 63-year-old Caucasian male presented with recurr

Externí odkaz: https://doaj.org/article/feb93d39837f4835a7e52ea94cb2fe28

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Akademický článek

Gitelman syndrome with normocalciuria – a case report

Autor: Mariusz Flisiński, Ewa Skalska, Barbara Mączyńska, Natalia Butt-Hussaim, Agnieszka Sobczyńska-Tomaszewska, Olga Haus, Jacek Manitius

Publikováno v: BMC Nephrology, Vol 23, Iss 1, Pp 1-8 (2022)

Abstract Background Gitelman Syndrome (GS) is a hereditary tubulopathy associated with a biallelic inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT). The typical clinical manifestation is

Externí odkaz: https://doaj.org/article/e05ecd10cd084fa0bc1b50751ef9d0c3

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Akademický článek

A new family with spastic paraplegia type 51 and novel mutations in AP4E1

Autor: Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk

Publikováno v: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)

Abstract Background Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly chara

Externí odkaz: https://doaj.org/article/89e75c0ed8f44727a1ba9d71946e06f6

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Akademický článek

CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3

Autor: Karol Jastrzębski, Magdalena Obrembska, Łukasz Kępczyński, Katarzyna Turoboś, Agnieszka Sobczyńska-Tomaszewska, Elżbieta Miller, Andrzej Głąbiński

Publikováno v: Aktualności Neurologiczne, Vol 18, Iss 1, Pp 47-51 (2018)

Najczęstszą genetycznie uwarunkowaną chorobą małych naczyń związaną z udarami i naczyniopochodnym otępieniem jest mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią (cerebral autosomal dominant arte

Externí odkaz: https://doaj.org/article/65b2819dc6a44a6b938664218b51cf9c

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Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

Autor: Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczyńska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge, Olga Haus

Publikováno v: The Application of Clinical Genetics. 15:27-38

Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efedb4663e7698134ed38f31120921f6
https://doi.org/10.2147/tacg.s357136

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Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme

Autor: Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska

Publikováno v: Genes; Volume 13; Issue 5; Pages: 802

Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97e69c34afdc90ab9358d13b9e0d58f

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Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Autor: Patryk Lipiński, Anna Bogdańska, Anna Tylki-Szymańska, Agnieszka Sobczyńska-Tomaszewska

Publikováno v: Acta Biochimica Polonica.

Background: Several transferrin gene polymorphisms are known to result in a shifted IEF pattern. The aim of this study was to characterize the transferrin gene polymorphisms observed in patients from one referral center. Materials and methods: Patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2d31eed94ea5d6da5b99b2143fc6fb6
https://doi.org/10.18388/abp.2020_5715

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Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians

Autor: Dariusz Sołdacki, Leszek Paczek, Radoslaw Zagozdzon, Magdalena Kacprzak, Agnieszka Sobczyńska-Tomaszewska, Pawel Siedlecki, Beata Wolska-Kusnierz, K. Czerska, Karina Jahnz-Różyk, Jolanta Zegarska, Ewa Więsik-Szewczyk, Ewa Hryniewiecka, Ewa Bernatowska

Publikováno v: Journal of Clinical Medicine
Volume 10
Issue 3
Journal of Clinical Medicine, Vol 10, Iss 465, p 465 (2021)

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and should be co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026a7b68148cd93c41fbf160f21c6ed1

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