Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Kevin, Berendse"'
Autor:
Eva M.M. Hoytema van Konijnenburg, Ilse K. Luirink, Sebastian E.E. Schagen, Marc Engelen, Kevin Berendse, Bwee Tien Poll-The, Malika Chegary
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/52fbed6771b643089ad345807f92c836
Autor:
Kevin, Berendse, Tim G J, de Meij, Joanne, Verheij, Sebastiaan W R, Nijmeijer, Harriët, Heijboer, Vincent G M, Geukers
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 165
Infants who are born in The Netherlands receive oral vitamin K to prevent bleeding due to a vitamin K deficiency. However the incidence of such bleedings are higher compared to other European countries. Therefore, the Dutch Health Council advised in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b74a7b74e44219bd585264c6553e1e93
https://pubmed.ncbi.nlm.nih.gov/34346618
https://pubmed.ncbi.nlm.nih.gov/34346618
Autor:
Ilse K. Luirink, Eva M. M. Hoytema van Konijnenburg, Sebastian E.E. Schagen, Bwee Tien Poll-The, Malika Chegary, Kevin Berendse, Marc Engelen
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular genetics and metabolism reports, 23:100590. Elsevier BV
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular genetics and metabolism reports, 23:100590. Elsevier BV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc6b0e2d968a9c0177e6d9ba80236298
https://pubmed.ncbi.nlm.nih.gov/32373468
https://pubmed.ncbi.nlm.nih.gov/32373468
Autor:
Bart G. P. Koot, Ronald J.A. Wanders, Frédéric M. Vaz, Frank G. Schaap, Hans R. Waterham, Peter L.M. Jansen, Martin Lenicek, Bwee Tien Poll-The, Kiran V. K. Koelfat, Femke C. C. Klouwer, Marc Engelen, E. M. Kemper, Kevin Berendse, Sacha Ferdinandusse
Publikováno v:
Journal of Inherited Metabolic Disease, 42(2), 303-312. Wiley
Journal of Inherited Metabolic Disease, 42(2), 303-312. Springer Netherlands
Journal of inherited metabolic disease, 42(2), 303-312. Springer Netherlands
Journal of Inherited Metabolic Disease, 42(2), 303-312. Springer Netherlands
Journal of inherited metabolic disease, 42(2), 303-312. Springer Netherlands
IntroductionCurrently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabolic disorders characterised by a deficiency of functional peroxisomes. In a previous study, we showed that oral cholic acid (CA) treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3d64f85a621d9b3e61da66b50bef818
https://cris.maastrichtuniversity.nl/en/publications/23189a2d-6636-4a8c-bf7b-ec125dfbe116
https://cris.maastrichtuniversity.nl/en/publications/23189a2d-6636-4a8c-bf7b-ec125dfbe116
Autor:
Johannes H. T. M. Koelman, Bwee Tien Poll-The, Ronald J.A. Wanders, Hans R. Waterham, Kevin Berendse, Peter G. Barth, Marc Engelen, Sacha Ferdinandusse, Charles B. L. M. Majoie, Frédéric M. Vaz
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 39(1), 93-106. Springer Netherlands
Journal of inherited metabolic disease, 39(1), 93-106. Springer Netherlands
Introduction We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Methods Retrospective cohort study in patients with a genetically confirmed ZSD. Results All patients (n = 19; aged 16–35 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10981c08665f4a5b2c14efe8ddb40adf
https://doi.org/10.1007/s10545-015-9880-2
https://doi.org/10.1007/s10545-015-9880-2
Autor:
Marc Engelen, Kevin Berendse, Miangela M Lacle, Bwee Tien Poll-The, Frank Roels, Femke C. C. Klouwer, Joanne Verheij, Peter G.J. Nikkels, Bart G. P. Koot
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
Journal of inherited metabolic disease, 42(5), 955-965. Springer Netherlands
Journal of inherited metabolic disease, 42(5), 955-965. Springer Netherlands
Patients with a Zellweger spectrum disorder (ZSD) have a defect in the assembly or maintenance of peroxisomes, leading to a multisystem disease with variable outcome. Liver disease is an important feature in patients with severe and milder phenotypes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26398b57937b2d356a73b4a79cac6c8e
https://pubmed.ncbi.nlm.nih.gov/31150129
https://pubmed.ncbi.nlm.nih.gov/31150129
Autor:
Myriam Baes, Femke C. C. Klouwer, Bwee Tien Poll-The, Marius A. van den Bergh-Weerman, Maxim Boek, Nicole N. van der Wel, Ronald J.A. Wanders, Marion J.J. Gijbels, Sander M. Houten, Kevin Berendse, Hans R. Waterham, Rob Ofman, Abhijit Babaji Shinde
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1865(10), 2774-2787. Elsevier
Biochimica et Biophysica Acta-Molecular Basis of Disease, 1865(10), 2774-2787. Elsevier Science
Biochimica et Biophysica Acta-Molecular Basis of Disease, 1865(10), 2774-2787. Elsevier
Biochimica et Biophysica Acta-Molecular Basis of Disease, 1865(10), 2774-2787. Elsevier Science
Biochimica et Biophysica Acta-Molecular Basis of Disease, 1865(10), 2774-2787. Elsevier
Zellweger spectrum disorders (ZSDs) are autosomal recessive diseases caused by defective peroxisome assembly. They constitute a clinical continuum from severe early lethal to relatively milder presentations in adulthood. Liver disease is a prevalent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142d0bfd0cff4bd7d9953c156e6f42a5
https://pubmed.ncbi.nlm.nih.gov/31207289
https://pubmed.ncbi.nlm.nih.gov/31207289
Autor:
Kevin Berendse, Hans R. Waterham, Bart G. P. Koot, Bwee Tien Poll-The, Nancy Braverman, Ronald J.A. Wanders, Femke C. C. Klouwer, Henkjan J. Verkade
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition, 66(2):e57, e57-e57. Lippincott Williams and Wilkins
Journal of pediatric gastroenterology and nutrition, 66(2). Lippincott Williams and Wilkins
Journal of pediatric gastroenterology and nutrition, 66(2). Lippincott Williams and Wilkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810a2b28d95b52143500d8e05d800493
https://doi.org/10.1097/mpg.0000000000001763
https://doi.org/10.1097/mpg.0000000000001763
Autor:
Martin Lenicek, Femke C. C. Klouwer, Frank G. Schaap, Kiran V. K. Koelfat, Frédéric M. Vaz, E. M. Kemper, Bwee Tien Poll-The, Marc Engelen, Bart G. P. Koot, Sacha Ferdinandusse, Kevin Berendse, Peter L.M. Jansen, Hans R. Waterham, Ronald J.A. Wanders
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 39(6), 859-868. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(6), 859-868. Wiley
Journal of inherited metabolic disease, 39(6), 859-868. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(6), 859-868. Wiley
Introduction Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinical abnormalities in patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ed818a8d6bace60bfe3943efd80a9a
https://pubmed.ncbi.nlm.nih.gov/27469511
https://pubmed.ncbi.nlm.nih.gov/27469511
Autor:
Bwee Tien Poll-The, Ronald J.A. Wanders, Kevin Berendse, Marc Engelen, Femke C. C. Klouwer, Sacha Ferdinandusse
Publikováno v:
Orphanet Journal of Rare Diseases
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692dd638a6643f1a8d90b9e13a5b3f40
https://doi.org/10.1186/s13023-015-0368-9
https://doi.org/10.1186/s13023-015-0368-9