Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Esmee Oussoren"'
Autor:
Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 12-18 (2021)
Abstract Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the
Externí odkaz:
https://doaj.org/article/cb91c53ae02a4567a0df7f2ee355599a
Autor:
Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 19, Iss , Pp 174-185 (2020)
Identification and characterization of disease-associated variants in monogenic disorders is an important aspect of diagnosis, genetic counseling, prediction of disease severity, and development of therapy. However, the effects of disease-associated
Externí odkaz:
https://doaj.org/article/aa2096434c614e02b965124eabcdc167
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ed4f87ab5e09425ab15c3a2e8a468511
Autor:
Martijn P.T. Ernst, Mike Broeders, Pablo Herrero-Hernandez, Esmee Oussoren, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 532-557 (2020)
We present an overview of clinical trials involving gene editing using clustered interspaced short palindromic repeats (CRISPR)-CRISPR-associated protein 9 (Cas9), transcription activator-like effector nucleases (TALENs), or zinc finger nucleases (ZF
Externí odkaz:
https://doaj.org/article/d66279e551614319a48a4115f2410fe4
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and sho
Externí odkaz:
https://doaj.org/article/59dbbee28c694cbeb9573c105db3cdb8
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the fi
Externí odkaz:
https://doaj.org/article/4486e49f335e4fec93f1c78be3d39a6e
Autor:
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter
Publikováno v:
Metabolites, Vol 11, Iss 1, p 8 (2020)
Untargeted metabolomics is an emerging technology in the laboratory diagnosis of inborn errors of metabolism (IEM). Analysis of a large number of reference samples is crucial for correcting variations in metabolite concentrations that result from fac
Externí odkaz:
https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092
Autor:
Eveline J Langereis, Tom Wagemans, Wim Kulik, Dirk J Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T van der Ploeg, George J Ruijter, Ron A Wevers, Frits A Wijburg, Naomi van Vlies
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138622 (2015)
Diagnosis of the mucopolysaccharidoses (MPSs) generally relies on an initial analysis of total glycosaminoglycan (GAG) excretion in urine. Often the dimethylmethylene blue dye-binding (DMB) assay is used, although false-negative results have been rep
Externí odkaz:
https://doaj.org/article/e5656ed7adc14525997a2963e79025fa
Autor:
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter
Publikováno v:
Journal of Inherited Metabolic Disease, 46(2), 206-219. Springer Netherlands
Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan-side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosacchari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9c70f5f7449b302e79db2c2a9ae45
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
https://pure.eur.nl/en/publications/2c037acc-9f86-40d9-adfb-4a386ea040a6
Autor:
Esmee Oussoren, Dimitris Rizopoulos, Martina Wilke, Serwet Demirdas, Ans T. van der Ploeg, Margreet A E M Wagenmakers, Sandra Pohl, Jan C. van der Meijden, Emma J. Dogterom, Nicole Muschol
Publikováno v:
Genetics in Medicine. 23:2047-2056
Purpose Mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma are rare autosomal recessive lysosomal storage disorders. Data on the natural course of the diseases are scarce. These data are important for counseling, therapies development, and impr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4a028b802815b13226e3a6819f484c
https://doi.org/10.1038/s41436-021-01244-4
https://doi.org/10.1038/s41436-021-01244-4