Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

Autor: Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherit

Externí odkaz: https://doaj.org/article/1e2c7a65f519419d9227e5651b457b27

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series

Autor: Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka, Dorota Hoffman-Zacharska

Publikováno v: International Journal of Molecular Sciences, Vol 24, Iss 2, p 1117 (2023)

Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI

Externí odkaz: https://doaj.org/article/0ee229b87dba4f30bbedd411deeebc4d

Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex

Autor: Monika Gos, Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Cezary Kowalewski, Katarzyna Woźniak, Bartłomiej Kwiek, Ewa Jankowska, Agnieszka Charzewska

Publikováno v: Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii

Introduction Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a097bf31f3d551a3c65d280b6c0ea321
http://europepmc.org/articles/PMC8802968

Mutation in the KRT1 gene causing epidermolysis bullosa simplex

Autor: Agnieszka Charzewska, Ewa Jankowska, Katarzyna Wertheim-Tysarowska, Katarzyna Woźniak, Cezary Kowalewski, Katarzyna Osipowicz, Monika Gos

Publikováno v: Advances in Dermatology and Allergology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c28a0acca77cb0b9186aae2375213f7
https://doi.org/10.5114/ada.2020.93443

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor:description of 13 novel patients and expansion of the clinical characteristics

Autor: Elena Gardella, Dejan Dukic, Denise Horn, Dragana Josifova, Jenny C. Taylor, Alexej Knaus, Agnieszka Charzewska, Rikke S. Møller, Helle Hjalgrim, Dorota Hoffman-Zacharska, Emma Clement, Rachel Horton, Usha Kini, Jane A. Hurst, Alistair T. Pagnamenta, Line H.G. Larsen, Karine Lascelles, Annika Wollenberg Juul, Allan Bayat, Mina Ryten, Deb K. Pal, Julie Vogt, Peter Krawitz, Ingo Helbig, Yvonne G. Weber, Manuela Pendziwiat, Ewa Obersztyn

Publikováno v: Bayat, A, Knaus, A, Juul, A W, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, J A, Josifova, D, Larsen, L H G, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D K, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P M, Helbig, I, Kini, U, Møller, R S & the DDD Study Group 2019, ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ', Genetics in Medicine, vol. 21, no. 10, pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3

Purpose: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a8f9fe80714bf722e9a5580191af10
https://findresearcher.sdu.dk:8443/ws/files/170256040/PIGT_CDG_a_disorder_of_the_glycosylphosphatidylinositol_anchor_description_of.pdf