Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Henk P. Blom"'
Autor:
Lelde Liepina, Desiree E. C. Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie‐Claire deWit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J. Blom
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 49-55 (2024)
Abstract Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10‐methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3(MTHF
Externí odkaz:
https://doaj.org/article/bfba9f423fed4d9586020e1b20459610
Autor:
Meryem Al Fatly, Monique T. Mulder, Jeanine Roeters van Lennep, Henk J. Blom, Kirsten A.C. Berk
Publikováno v:
Nutrition Journal, Vol 23, Iss 1, Pp 1-7 (2024)
Abstract Background/aims Having type 2 diabetes (T2D) in combination with being overweight results in an additional increase in cardiovascular disease (CVD) risk. In addition, T2D and obesity are associated with increased levels of total homocysteine
Externí odkaz:
https://doaj.org/article/62dd2a95169841cdac55f8d561d11f11
Autor:
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients
Externí odkaz:
https://doaj.org/article/78b8aa0bac9f4db58469ead2acc98901
Autor:
Lisa M. H. de Pont, Maartje T. P. M. Houben, Thijs O. Verhagen, Berit M. Verbist, Mark A. van Buchem, Claire C. Bommeljé, Henk M. Blom, Sebastiaan Hammer
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMénière's disease (MD) is a chronic inner ear disorder with a multifactorial etiology. Decreased visualization of the endolymphatic duct (ED) and sac (ES) is thought to be associated with MD, although controversy exists about whether this
Externí odkaz:
https://doaj.org/article/f94423a617d54ffcb70d582d071d54bc
Publikováno v:
Laryngoscope Investigative Otolaryngology, Vol 7, Iss 3, Pp 825-831 (2022)
Abstract Objective This study explores how treatment with intratympanic steroid injection affects quality of life, as well as several subjective complaints in patients with Ménière's disease. Methods Patients filled in the Ménière's Disease Outco
Externí odkaz:
https://doaj.org/article/b6b5600f3d4d446ababe262d0952bb39
Autor:
Apolline Imbard, Leslie Schwendimann, Sophie Lebon, Pierre Gressens, Henk J. Blom, Jean-François Benoist
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract One-carbon metabolism (1C metabolism) is of paramount importance for cell metabolism and mammalian development. It is involved in the synthesis or modification of a wide variety of compounds such as proteins, lipids, purines, nucleic acids a
Externí odkaz:
https://doaj.org/article/cf2d042047ea4f70b83c35769e98e261
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:
Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)
Abstract CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioni
Externí odkaz:
https://doaj.org/article/84539154ffee4aaaab416f986c502c2b
Autor:
Michiel Bongaerts, Purva Kulkarni, Alan Zammit, Ramon Bonte, Leo A. J. Kluijtmans, Henk J. Blom, Udo F. H. Engelke, David M. J. Tax, George J. G. Ruijter, Marcel J. T. Reinders
Publikováno v:
Metabolites, Vol 13, Iss 1, p 97 (2023)
Untargeted metabolomics (UM) is increasingly being deployed as a strategy for screening patients that are suspected of having an inborn error of metabolism (IEM). In this study, we examined the potential of existing outlier detection methods to detec
Externí odkaz:
https://doaj.org/article/55277592bb904597a726162336280ba9
Autor:
Lisa M. H. de Pont, Josephine M. van Steekelenburg, Thijs O. Verhagen, Maartje Houben, Jelle J. Goeman, Berit M. Verbist, Mark A. van Buchem, Claire C. Bommeljé, Henk M. Blom, Sebastiaan Hammer
Publikováno v:
Frontiers in Surgery, Vol 8 (2021)
Research Objective: To investigate the correlation between clinical features and MRI-confirmed endolymphatic hydrops (EH) and blood-labyrinth barrier (BLB) impairment.Study Design: Retrospective cross-sectional study.Setting: Vertigo referral center
Externí odkaz:
https://doaj.org/article/410a2bf8b4be478f8c9cef47f5e44fdb