Výsledky vyhledávání - "Frits Wijburg"

Akademický článek

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2018)

As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysos

Externí odkaz: https://doaj.org/article/77e2c55a1f004dacb060921ca52b1269

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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

Autor: Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser

Publikováno v: Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818

Contains fulltext : 283151.pdf (Publisher’s version ) (Open Access) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine-based NBS for LCHADD not only identifies LCHADD,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac31efe736b5ab73a20fdbf76edccd1
https://doi.org/10.1002/jimd.12502

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Gender, mutations and residual enzymatic activity: Investigation of predictive factors of alpha-mannosidosis phenotypic presentation and of response to velmanase alfa long term enzyme replacement therapy

Autor: Christine I. Dali, Line Borgwardt, Allan M. Lund, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Nicole Muschol, Yasmina Amraoui, Anna Tylki-Szymanska, Frits Wijburg, Johanna M.P. Van den Hout, Mercedes Gil-Campos, Nathalie Guffon, Simon A. Jones, Paul Harmatz

Publikováno v: Molecular Genetics and Metabolism. 123:S35-S36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf40c40bbbbabbfc3112765d14cdfb5
https://doi.org/10.1016/j.ymgme.2017.12.073

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Autor: Marc C, Patterson, Christian J, Hendriksz, Mark, Walterfang, Frederic, Sedel, Marie T, Vanier, Frits, Wijburg, J E, Wraith

Publikováno v: Molecular genetics and metabolism, 106(3), 330-344. Academic Press Inc.

Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a8a8578bd37f253f82c0e233301c76
https://doi.org/10.1016/j.ymgme.2012.03.012

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Nasogastric intubation as sole treatment of caustic esophageal lesions

Autor: Frits Wijburg, Beukers, M. M., Heymans, H. S., Bartelsman, J. F., Den Hartog Jager, F. C.

Publikováno v: Annals of otology, rhinology, and laryngology, 94(4 Part 1), 337-341. Annals Publishing Company
Scopus-Elsevier

In this partly retrospective and partly prospective study, we examined 200 patients with suspected caustic ingestion. No steroids were administered to the patients involved. Lesions in the esophagus were found in 93 patients. Thirty-two patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0771428da2d1bb0489f4c1b04f2e45bf
https://pure.amc.nl/en/publications/nasogastric-intubation-as-sole-treatment-of-caustic-esophageal-lesions(d364ab92-7dbe-4d1f-be97-fe36733f7d31).html

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Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: Implications for detection of respiratory chain defects

Autor: Frits Wijburg, Feller, N., Scholte, H. R., Przyrembel, H., Wanders, R. J. A.

Publikováno v: Scopus-Elsevier
Biochemistry international, 19(3), 563-570. Academic Press Inc.

We investigated the time course of the formation of lactate and pyruvate from glucose in cultured skin fibroblasts from controls, from a patient with a cytochrome c oxidase deficiency and from controls treated with inhibitors of the individual respir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5724b4ea9cc9a81c0ab4107372bc1e27
http://www.scopus.com/inward/record.url?eid=2-s2.0-0024421922&partnerID=MN8TOARS

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