Search Results - "van Geel, Björn M"

Disease progression in women with X-linked adrenoleukodystrophy is slow by Huffnagel, Irene C, Dijkgraaf, Marcel G W, Janssens, Georges E, van Weeghel, Michel, van Geel, Björn M, Poll-The, Bwee Tien, Kemp, Stephan, Engelen, Marc

“…Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical…”
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Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness by Huffnagel, Irene C, van Ballegoij, Wouter J C, van Geel, Björn M, Vos, Johanna M B W, Kemp, Stephan, Engelen, Marc

“…Progressive myelopathy is the most frequent and disabling manifestation of adrenoleukodystrophy, but a lack of quantitative natural history data is hampering…”
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Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study by van Geel, Björn M., Poll-The, Bwee Tien, Verrips, Aad, Boelens, Jaap-Jan, Kemp, Stephan, Engelen, Marc

“…Background X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder. Male patients develop adrenocortical insufficiency (80 % before…”
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management by Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald J A, Aubourg, Patrick, Poll-The, Bwee Tien

“…X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the…”
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X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy by Engelen, Marc, van der Kooi, Anneke J., Kemp, Stephan, Wanders, Ronald J. A., Sistermans, Erik A., Waterham, Hans R., Koelman, Johannes T. M., van Geel, Björn M., de Visser, Marianne

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Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics by Schackmann, Martin J.A., Ofman, Rob, van Geel, Björn M., Dijkstra, Inge M.E., van Engelen, Klaartje, Wanders, Ronald J.A., Engelen, Marc, Kemp, Stephan

“…X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids…”
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The interactive web-based program MSmonitor for self-management and multidisciplinary care in multiple sclerosis: utilization and valuation by patients by Jongen, Peter Joseph, Sinnige, Ludovicus G, van Geel, Björn M, Verheul, Freek, Verhagen, Wim I, van der Kruijk, Ruud A, Haverkamp, Reinoud, Schrijver, Hans M, Baart, Jacoba C, Visser, Leo H, Arnoldus, Edo P, Gilhuis, Herman Jacobus, Pop, Paul, Booy, Monique, Heerings, Marco, Kool, Anton, van Noort, Esther

“…MSmonitor is an interactive web-based program for self-management and integrated, multidisciplinary care in multiple sclerosis. To assess the utilization and…”
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Hypothermia After CPR Prolongs Conduction Times of Somatosensory Evoked Potentials by Bouwes, Aline, Doesborg, Patty G. G., Laman, D. Martin, Koelman, Johannes H. T. M., Imanse, Jaap G., Tromp, Selma C., van Geel, Björn M., van der Kooi, Elly L., Zandbergen, Eveline G. J., Horn, Janneke

“…Background To investigate the effect of mild hypothermia on conduction times and amplitudes of median nerve somatosensory evoked potentials (SEP) in patients…”
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Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy by de Beer, Marlijn, Engelen, Marc, van Geel, Björn M

“…OBJECTIVE:To study the frequency of additional cerebral demyelination in Dutch patients with adrenomyeloneuropathy (AMN). METHODS:Consecutive patients with AMN…”
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Evaluation of the yield of 24-h close observation in patients with mild traumatic brain injury on anticoagulation therapy: a retrospective multicenter study and meta-analysis by Verschoof, Merelijne A., Zuurbier, Charlotte C. M., de Beer, Frank, Coutinho, Jonathan M., Eggink, Evert A., van Geel, Björn M.

“…Background/aims Patients with mild traumatic brain injury (mTBI) on anticoagulants have an increased risk of intracranial hemorrhage (ICH). However, consensus…”
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ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations by Kemp, Stephan, Pujol, Aurora, Waterham, Hans R., van Geel, Björn M., Boehm, Corinne D., Raymond, Gerald V., Cutting, Garry R., Wanders, Ronald J.A., Moser, Hugo W.

“…X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half‐transporter (ALDP) involved in the import…”
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Lovastatin in X-Linked Adrenoleukodystrophy by Engelen, Marc, van Geel, Bjorn M, de Visser, Marianne, Ofman, Rob, Wanders, Ronald J.A, Dijkgraaf, Marcel G.W, Poll-The, Bwee Tien, Hijzen, Michiel, Kemp, Stephan, van der Wardt, Lucinda A

“…To the Editor: As reported previously in the Journal, lovastatin lowers levels of very-long-chain fatty acids in plasma in patients with X-linked…”
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Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy by van Geel, Björn M., Bezman, Lena, Loes, Daniel J., Moser, Hugo W., Raymond, Gerald V.

“…Our objective was to study the phenotype evolution of X‐linked adrenoleukodystrophy (X‐ALD) and the relation between axonal degeneration and cerebral…”
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The interactive web-based program MSmonitor for self-management and multidisciplinary care in multiple sclerosis: concept, content, and pilot results by Jongen, Peter Joseph, Sinnige, Ludovicus G, van Geel, Björn M, Verheul, Freek, Verhagen, Wim I, van der Kruijk, Ruud A, Haverkamp, Reinoud, Schrijver, Hans M, Baart, J Coby, Visser, Leo H, Arnoldus, Edo P, Gilhuis, H Jacobus, Pop, Paul, Booy, Monique, Lemmens, Wim, Donders, Rogier, Kool, Anton, van Noort, Esther

“…There is a growing need to offer persons with multiple sclerosis (PwMS) possibilities for self-management and to integrate multidisciplinary health data. In…”
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X-linked adrenoleukodystrophy in women: a cross-sectional cohort study by ENGELEN, Marc, BARBIER, Mathieu, DE VISSER, Marianne, POLL-THE, Bwee T, KEMP, Stephan, DIJKSTRA, Inge M. E, SCHÜR, Remmelt, DE BIE, Rob M. A, VERHAMME, Camiel, DIJKGRAAF, Marcel G. W, AUBOURG, Patrick A, WANDERS, Ronald J. A, VAN GEEL, Bjorn M

“…X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal…”
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X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy by van Geel, Björn M, Assies, Johanna, Wanders, Ronald J A, Barth, Peter G

“…X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long…”
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Predominance of the adrenomyeloneuropathy phenotype of X‐linked adrenoleukody strophy in the Netherlands: A survey of 30 kindreds by van Geel, Björn M., Assies, Johanna, Weverling, Gerrit J., Barth, Peter G.

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Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy by Engelen, Marc, Barbier, Mathieu, Dijkstra, Inge M E, Schür, Remmelt, de Bie, Rob M, Verhamme, Camiel, Dijkgraaf, Marcel G W, Aubourg, Patrick A, Wanders, Ronald J A, van Geel, Bjorn M, de Visser, Marianne, Poll-The, Bwee T, Kemp, Stephan

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Two intronic mutations in the adrenoleukodystrophy gene by Kemp, S, Ligtenberg, M J, van Geel, B M, Barth, P G, Sarde, C O, van Oost, B A, Bolhuis, P A

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Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome by Nannenberg, Eline A., Bijlmer, Rob, Van Geel, Bjorn M., Hennekam, Raoul C.M.

“…The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli,…”
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