Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jelle Achten"'
Autor:
Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in n
Externí odkaz:
https://doaj.org/article/27a339f2ae754c6ab22930007a45ad79
Autor:
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible
Externí odkaz:
https://doaj.org/article/14f787f239734944a06747ee7ac1581c
Autor:
Jörgen Bierau, Boris W. Kramer, Jelle Achten, Martijn Lindhout, Ana I. Coelho, M. Estela Rubio-Gozalbo
Publikováno v:
The Anatomical Record. 300:1570-1575
Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26b9c22da5c195a352a74c232dcf5a70
https://doi.org/10.1002/ar.23616
https://doi.org/10.1002/ar.23616
Autor:
Ana I. Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W. Kramer, M. Estela Rubio-Gozalbo
Publikováno v:
The Anatomical Record: advances in integrative anatomy and evolutionary biology, 300(9), 1570-1575. Wiley
The Anatomical Record
The Anatomical Record
Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::26b9c22da5c195a352a74c232dcf5a70
https://cris.maastrichtuniversity.nl/en/publications/0954737b-738b-4657-82c1-62df76cdfdcd
https://cris.maastrichtuniversity.nl/en/publications/0954737b-738b-4657-82c1-62df76cdfdcd
Autor:
Ana I, Coelho, Jörgen, Bierau, Martijn, Lindhout, Jelle, Achten, Boris W, Kramer, M Estela, Rubio-Gozalbo
Publikováno v:
Anatomical record (Hoboken, N.J. : 2007). 300(9)
Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7010933fad790fbea92631f99dc4c328
https://pubmed.ncbi.nlm.nih.gov/28545161
https://pubmed.ncbi.nlm.nih.gov/28545161