Search Results - "Crabben, S N"

An update on serine deficiency disorders by van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R., de Koning, T. J.

“…Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders…”
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Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines by Hitzert, M M, van der Crabben, S N, Baldewsingh, G, van Amstel, H K Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C M A, Zijlmans, C W R

“…Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is…”
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Effect of acute hyperglycaemia and/or hyperinsulinaemia on proinflammatory gene expression, cytokine production and neutrophil function in humans by Stegenga, M. E., Crabben, S. N. van der, Dessing, M. C., Pater, J. M., Van Den Pangaart, P. S., De Vos, A. F., Tanck, M. W., Roos, D., Sauerwein, H. P., Van Der Poll, T.

“…Aims  Type 2 diabetes is frequently associated with infectious complications. Swift activation of leucocytes is important for an adequate immune response. We…”
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BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status by Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.

“…Background Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by truncating variants in the MYBPC3 gene. HCM is…”
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Idiopathic ventricular fibrillation: is it a case for genetic testing? by van der Crabben, S. N., Wilde, A. A. M.

“…Idiopathic ventricular fibrillation (IVF) is a diagnosis of exclusion in sudden cardiac arrest (SCA) survivors. Although there are clear guidelines on the…”
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Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency by van der Crabben, S. N., Wijburg, F. A., Ackermans, M. T., Sauerwein, H. P.

“…Summary Cystathionine β-synthase (CBS)-deficient patients develop premature arteriosclerosis and thrombosis leading to a high risk of a vascular event before…”
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Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II by Kempers, M J E, van der Crabben, S N, de Vroede, M, Alfen-van der Velden, J, Netea-Maier, R T, Duim, R A J, Otten, B J, Losekoot, M, Wit, J M

“…Congenital isolated growth hormone deficiency (IGHD) is a rare endocrine disorder that presents with severe proportionate growth failure. Dominant (type II)…”
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Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers by Jansen, Mark, Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.

“…Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract…”
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Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions by Renkema, G. H., Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A. P., Nikkels, P. G. J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, R. J. T.

“…The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects…”
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Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care by van der Crabben, S. N., Komdeur, F. L., Nossent, E. J., Deprez, R. H. Lekanne, Broekhuizen, E. A., van der Werf, C., Vermeer, A. M. C., Niessen, H. W. M., Houweling, A. C.

“…Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young…”
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Development of a novel Patient-Reported Outcome Measure (PROM) for adults with an Inherited Cardiac Condition (ICC) by Van Pottelberghe, S, Van Der Crabben, S N, Amin, A S, Wilde, A A, Scheirlynck, E, Nekkebroeck, J, Hes, F, Kupper, N

“…Abstract Background Research on the quality-of-life (QoL) among patients with inherited cardiac conditions (ICC) is limited. Existing evidence from a…”
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Bradycardia in a long QT type 2 family: coinciding KCNH2 and HCN4 variants by Copier, J S, Andrzejczyk, K, Amin, A S, Van Der Crabben, S N, Beekman, L, Bezzina, C R, Verkerk, A O, Lodder, E M

“…Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): the Dutch Research Council: NWO…”
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Utility of polygenic risk score for prediction of dilated cardiomyopathy and modulation of severity of LV dysfunction among cases by Kramarenko, D R, Jurgens, S J, Ramo, J T, Van Orsouw, C A, Hottenga, J J, Charron, P, Meder, B, Palotie, A, Daly, M, Ellinor, P T, Pinto, Y M, Aragam, K G, Van Der Crabben, S N, Amin, A S, Bezzina, C R

“…Abstract Background Dilated cardiomyopathy (DCM) is a predominant cause of heart failure and a leading indication for cardiac transplantation. While rare…”
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The sports cardiology team: personalizing athlete care through a comprehensive, multidisciplinary approach by Van Hattum, J, Verwijs, S M, Spies, J L, Boekholdt, S M, Groenink, M, Panhuyzen-Goedkoop, N M, Senden, P J, Willems, A R, Knobbe, I, Blom, N A, Wijne, C A C M, Crabben, S N, Pinto, Y M, Wilde, A A M, Jorstad, H T

“…Abstract Background/Introduction Multidisciplinary teams (MDT) are an integral part of cardiology. In sports cardiology wide area of expertise is required to…”
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Mandibuloacral dysplasia type B , clinical diagnostic criteria and management guidelines by Hitzert, M. M, van der Crabben, S. N, Baldewsingh, G, van Amstel, H. K. Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C. M. A, Zijlmans, C. W. R

“…Mandibuloacral Dysplasia with type B lipodystrophy (MADB) is a rare premature aging disorder with an autosomal recessive inheritance pattern. MADB is…”
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The sports cardiology team: personalising athlete care through a comprehensive, multidisciplinary approach by Van Hattum, J, Verwijs, SM, De Vries, ST, Boekholdt, SM, Groenink, M, Van Randen, A, Panhuyzen-Goedkoop, NM, Willems, AR, Knobbe, I, Blom, NA, Van Der Crabben, SN, Bijsterveld, NR, Pinto, YM, Wilde, AAM, Jorstad, HT

“…Abstract Funding Acknowledgements Type of funding sources: Other. Main funding source(s): Dutch National Olympic Committee & National Sports Federation…”
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Hyperglycemia Stimulates Coagulation, Whereas Hyperinsulinemia Impairs Fibrinolysis in Healthy Humans by STEGENGA, Michiel E, VAN DER CRABBEN, Saskia N, LEVI, Marcel, DE VOS, Alex F, TANCK, Michael W, SAUERWEIN, Hans P, VAN DER POLL, Tom

“…Hyperglycemia Stimulates Coagulation, Whereas Hyperinsulinemia Impairs Fibrinolysis in Healthy Humans Michiel E. Stegenga 1 2 , Saskia N. van der Crabben 3 ,…”
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy by Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

“…A Correction to this paper has been published: https://doi.org/10.1038/s41436-020-01090-w…”
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An update on serine deficiency disorders : Metabolic Encephalopathies by VAN DER CRABBEN, S. N, VERHOEVEN-DUIF, N. M, BRILSTRA, E. H, VAN MALDERGEM, L, COSKUN, T, RUBIO-GOZALBO, E, BERGER, R, DE KONING, T. J

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Stimulation of gluconeogenesis by intravenous lipids in preterm infants: response depends on fatty acid profile by van Kempen, Anne A M W, van der Crabben, Saskia N, Ackermans, Mariëtte T, Endert, Erik, Kok, Joke H, Sauerwein, Hans P

“…In preterm infants, both hypo- and hyperglycemia are a frequent problem. Intravenous lipids can affect glucose metabolism by stimulation of gluconeogenesis by…”
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