Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Edith C. H. Friesema"'
Autor:
Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Floderus, Caroline Schmitt, Laurent Gouya, Alexandre Colavin, Robert Nussbaum, Edith C. H. Friesema, Raili Kauppinen, Jordi To-Figueras, Aasne K. Aarsand, Robert J. Desnick, Michael Garton, Frederick P. Roth
Publikováno v:
bioRxiv. Cold Spring Harbor Laboratory Press
bioRxiv
bioRxiv
Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5a11044cd46f85fd47c0eccc53c389
https://doi.org/10.1101/2023.02.06.527353
https://doi.org/10.1101/2023.02.06.527353
Autor:
Joost van Rosmalen, Jasmin Barman-Aksözen, Debby Wensink, J. H. Paul Wilson, Janneke G. Langendonk, Margreet A E M Wagenmakers, Edith C. H. Friesema
Publikováno v:
JAMA Dermatology, 156(5), 570-575. American Medical Association
JAMA Dermatol
JAMA Dermatol
IMPORTANCE: The effectiveness of afamelanotide treatment in patients with erythropoietic protoporphyria (EPP) in clinical practice who experience pain after light exposure that substantially impairs quality of life is unknown. OBJECTIVE: To evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e925800d9ca5e7c25f99b2ccd0d087
https://doi.org/10.1001/jamadermatol.2020.0352
https://doi.org/10.1001/jamadermatol.2020.0352
Autor:
Stefano Maria Pagnotta, Antonia Giacco, Denise van de Laarschot, Edith C. H. Friesema, Linda Broer, Remco Verkaik, Giuseppe delli Paoli, P. Mila Jhamai, M. Carola Zillikens, Antonia Lanni, André G. Uitterlinden, Rosalba Senese, Pieter de Lange, Pascal P. Arp
Publikováno v:
International Journal of Sport Nutrition and Exercise Metabolism, 30(6), 386-395. Human Kinetics Publishers Inc.
Fasting enhances the beneficial metabolic outcomes of exercise; however, it is unknown whether body composition is favorably modified on the short term. A baseline–follow-up study was carried out to assess the effect of an established protocol invo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb774fa02cd5d87c37887ac37790fca
https://pure.eur.nl/en/publications/2259bcb3-23f0-412a-b947-2233ab27c0e7
https://pure.eur.nl/en/publications/2259bcb3-23f0-412a-b947-2233ab27c0e7
Publikováno v:
Journal of Cardiac Surgery, 34(4), 226-228. Wiley-Blackwell Publishing Ltd
Journal of Cardiac Surgery
Journal of Cardiac Surgery
We report implantation of a left ventricular assist device (LVAD) in a patient with Parkinson's disease. Postoperative fluid overload together with insufficient LVAD output in the setting of vasodilation through levodopa likely caused renal hypoperfu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55073adadf7b5345518f9f1f36346d1e
https://doi.org/10.1111/jocs.14012
https://doi.org/10.1111/jocs.14012
Autor:
Willem Lodewijk van der Pol, J. H. Paul Wilson, Rochus A. Neeleman, Rita H. Koole-Lesuis, Eduard J. van Beers, Edith C. H. Friesema, Janneke G. Langendonk
Publikováno v:
Hepatology, 70(1), 434-436. John Wiley & Sons Ltd.
Hepatology (Baltimore, Md.)
Hepatology (Baltimore, Md.)
We present a case of delta-aminolevulinic acid dehydratase-porphyria (ADP) who was successfully treated by suppressing bone-marrow production of toxic heme precursors. Together with supporting evidence from earlier cases, it is likely ADP has both he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf97a94b7e170aba14e5a2bf9153685
https://dspace.library.uu.nl/handle/1874/391837
https://dspace.library.uu.nl/handle/1874/391837
Autor:
D. Montgomery Bissell, Herbert L. Bonkovsky, Laurent Gouya, Aasne K. Aarsand, Edith C. H. Friesema, Sverre Sandberg, Michael Norman Badminton, Ylva Floderus, Raili Kauppinen, Yedidyah Weiss, Brenden Chen, Caroline Schmitt, Hervé Puy, Pauline Harper, Karl E. Anderson, Jean Charles Deybach, Yonina Loskove, Robert J. Desnick, Sharon D. Whatley, Makiko Yasuda, John D. Phillips, Pavel Martásek, Jordi To-Figueras, Maria Domenica Cappellini
Publikováno v:
Genetics in Medicine, 21(11), 2605-2613. Lippincott Williams & Wilkins
Genet Med
Genet Med
With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f2f2b4a47181e8781f744c1a6e1660
https://pure.eur.nl/en/publications/2e8660e2-4fa5-4786-bb8b-7476fb2b2685
https://pure.eur.nl/en/publications/2e8660e2-4fa5-4786-bb8b-7476fb2b2685
Autor:
Ewout J. Hoorn, Usha M. Bhaggoe, René de Vries, Jeanette M.G. van Gool, Lodi C.W. Roksnoer, Edith C. H. Friesema, Frank P.J. Leijten, A.H. Jan Danser, Ingrid M. Garrelds, Wendy W. Batenburg, Richard van Veghel, Marian C. van Groningen
Publikováno v:
Clinical Science, 130(14), 1209-1220. Portland Press, Ltd.
ARNI [dual AT1 (angiotensin II type 1) receptor–neprilysin inhibition] exerts beneficial effects on blood pressure and kidney function in heart failure, compared with ARB (AT1 receptor blockade) alone. We hypothesized that ARNI improves cardiac and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80711223ac6dfffe31b943cc8c72b0f
https://doi.org/10.1042/cs20160197
https://doi.org/10.1042/cs20160197
Autor:
Jimmy F.P. Berbée, Floris H. P. van Velden, Gardi J. Voortman, Frits Smit, Kimberly J. Nahon, Ingrid M. Jazet, Maaike E. Straat, Kani Botani, Borja Martinez-Tellez, Lenka M. Pereira Arias-Bouda, Jonatan R. Ruiz, Lioe-Fee de Geus-Oei, Jan B. van Klinken, Fleur Doornink, Mariëtte R. Boon, Patrick C.N. Rensen, Edith C. H. Friesema, Gustavo Abreu-Vieira
Publikováno v:
Diabetologia, 61(11), 2386-2397. Springer-Verlag
Diabetologia
Diabetologia, 61(11), 2386-2397. Springer Verlag
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Diabetologia, 61(11), 2386-2397
Diabetologia
Diabetologia, 61(11), 2386-2397. Springer Verlag
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Diabetologia, 61(11), 2386-2397
The aim of this study was to evaluate the effect of sitagliptin on glucose tolerance, plasma lipids, energy expenditure and metabolism of brown adipose tissue (BAT), white adipose tissue (WAT) and skeletal muscle in overweight individuals with predia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a0e6145e149e110c5f2522ca4965de
https://pure.eur.nl/en/publications/6e5e3510-057e-4c64-998f-8ce76551ee2c
https://pure.eur.nl/en/publications/6e5e3510-057e-4c64-998f-8ce76551ee2c
Autor:
Rochus A. Neeleman, J. H. Paul Wilson, G. Sophie Mijnhout, Edith C. H. Friesema, Rita H. Koole-Lesuis, Janneke G. Langendonk, Margreet A E M Wagenmakers
Publikováno v:
Journal of Inherited Metabolic Disease, 41(5), 809-817. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Introduction A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a6a5148931e50f820c21a7bdb9726c
https://pure.eur.nl/en/publications/f2c5e3e3-ad11-45ef-899e-0e7eafef07d3
https://pure.eur.nl/en/publications/f2c5e3e3-ad11-45ef-899e-0e7eafef07d3
Autor:
Selmar Leeuwenburgh, Theo J. Visser, Gardi J. Voortman, Sander Kersten, Jenny A. Visser, Edith C. H. Friesema, Jacobie Steenbergen, Axel P. N. Themmen, Aldo Grefhorst, Johanna C van den Beukel, Wieneke Dijk
Publikováno v:
Journal of Endocrinology, 238(2), 91-106. Bioscientifica Ltd
Journal of Endocrinology 238 (2018) 2
Journal of Endocrinology, 238(2), 91-106
Journal of Endocrinology
Journal of Endocrinology, BioScientifica, 2018, 238 (2), pp.91-106. ⟨10.1530/JOE-18-0076⟩
Journal of endocrinology, 238(2), 91-106. Society for Endocrinology
Journal of Endocrinology 238 (2018) 2
Journal of Endocrinology, 238(2), 91-106
Journal of Endocrinology
Journal of Endocrinology, BioScientifica, 2018, 238 (2), pp.91-106. ⟨10.1530/JOE-18-0076⟩
Journal of endocrinology, 238(2), 91-106. Society for Endocrinology
Cold exposure of mice is a common method to stimulate brown adipose tissue (BAT) activity and induce browning of white adipose tissue (WAT) that has beneficial effects on whole-body lipid metabolism, including reduced plasma triglyceride (TG) concent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7941b3bcf0bcb9833c1bda3d8c164caa
https://pure.eur.nl/en/publications/7713c988-d9a1-411d-a2de-8654219bad4d
https://pure.eur.nl/en/publications/7713c988-d9a1-411d-a2de-8654219bad4d