Zobrazeno 1 - 10
of 167
pro vyhledávání: '"ERT, Enzyme replacement therapy"'
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Nel Dąbrowska-Leonik, Barbara Piątosa, Ewa Słomińska, Nadezda Bohynikova, Katarzyna Bernat-Sitarz, Ewa Bernatowska, Beata Wolska-Kuśnierz, Krzysztof Kałwak, Sylwia Kołtan, Anna Dąbrowska, Jolanta Goździk, Marek Ussowicz, Małgorzata Pac
Publikováno v:
Frontiers in Immunology, Vol 13 (2023)
IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. Untreated patients develop immune and non-immune symptoms with fatal clinical co
Externí odkaz:
https://doaj.org/article/72303a2ee488468d9889cc7b99a786a4
Autor:
Magdalena Mroczek, Ignazio Maniscalco, Manon Sendel, Ralf Baron, Erich Seifritz, Albina Nowak
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Patients suffering from Fabry disease (FD) have an increased risk of developing neuropsychiatric symptoms (NPS), mostly impairment in cognitive performance and depression. Single cases of psychosis have been reported, however, their association with
Externí odkaz:
https://doaj.org/article/8dd1e7a7b8d246ab949d54b31b6f6ed2
Autor:
Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, Giorgio Conte, Federica Deodato, Serena Gasperini, Francesca Menni, Francesca Furlan, Laura Rubert, Fabio Maria Triulzi, Claudia Cinnante
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report
Externí odkaz:
https://doaj.org/article/29bd8cd004034c99adb89be849f766b3
Publikováno v:
Molecular Genetics and Metabolism
Introduction The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. Materials-methods Retrospective analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2918e5ef97c8cf7968ff4e4379bf1afa
https://doi.org/10.1016/j.ymgme.2021.08.004
https://doi.org/10.1016/j.ymgme.2021.08.004
Autor:
Masataka Kasahara, Haruhiko Sago, Aki Nakamura-Takahashi, Nana Saso, Aikou Okamoto, Osamu Samura, José Luis Millán, Sonoko Narisawa, Akihiro Hasegawa, Akihiro Umezawa
Publikováno v:
Regenerative Therapy, Vol 18, Iss, Pp 168-175 (2021)
Regenerative Therapy
Regenerative Therapy
Hypophosphatasia (HPP) is a congenital skeletal disease. Impairment of bone mineralization and seizures are due to a deficiency of tissue-nonspecific alkaline phosphatase (TNAP). Enzyme replacement therapy (ERT) is available as a highly successful tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcdb28092ad1d917c704a2ae0de2d9c1
http://www.sciencedirect.com/science/article/pii/S235232042100047X
http://www.sciencedirect.com/science/article/pii/S235232042100047X
Autor:
Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, Richard Yost, William L. Clapp, Timothy J. Garrett
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss, Pp 71-78 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab
Highlights • Fabry is an X-linked lysosomal storage disease with deficiency in α-galactosidase. • This deficiency results in the accumulation of glycosphinogolipids. • Diagnosis is often made by analysis of globotriaosylceramide in fluids and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc601d022917c183c0e3e9b796fc894b
https://doi.org/10.1016/j.jmsacl.2021.11.004
https://doi.org/10.1016/j.jmsacl.2021.11.004
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263
https://hdl.handle.net/11577/3468263
