Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Diane F. van Rappard"'
Autor:
Marianna Bugiani, Ulrich Matzner, Marjo S. van der Knaap, Aimee S. R. Westerveld, Jaap Jan Boelens, Bonnie C. Plug, Marjolein Breur, Peter M. van Hasselt, Diane F. van Rappard, Adeline Vanderver, Nicole I. Wolf, Caroline A. Lindemans, Sharon I. de Vries, Maarten H. P. Kole, Volkmar Gieselmann, Shanice Beerepoot
Publikováno v:
Wolf, N I, Breur, M, Plug, B, Beerepoot, S, Westerveld, A S R, van Rappard, D F, de Vries, S I, Kole, M H P, Vanderver, A, van der Knaap, M S, Lindemans, C A, van Hasselt, P M, Boelens, J J, Matzner, U, Gieselmann, V & Bugiani, M 2020, ' Metachromatic leukodystrophy and transplantation : remyelination, no cross-correction ', Annals of Clinical and Translational Neurology, vol. 7, no. 2, pp. 169-180 . https://doi.org/10.1002/acn3.50975
Annals of Clinical and Translational Neurology, 7(2), 169-180. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 169-180 (2020)
Annals of Clinical and Translational Neurology, 7, 169-180. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 7(2), 169-180. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 169-180 (2020)
Annals of Clinical and Translational Neurology, 7, 169-180. John Wiley and Sons Ltd
OBJECTIVE: In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7002422087fa1ff22bab4704049ecf
https://doi.org/10.1002/acn3.50975
https://doi.org/10.1002/acn3.50975
Autor:
Diane F. van Rappard, Marjo S. van der Knaap, Nicole I. Wolf, Annemieke I. Buizer, Willem J.R. van Ouwerkerk, Nikki van der Veldt, Jules G. Becher, Laura A. van de Pol
Publikováno v:
Developmental Medicine and Child Neurology, 61(2), 232-235. Wiley-Blackwell
Van Der Veldt, N, Van Rappard, D F, Van De Pol, L A, Van Der Knaap, M S, Van Ouwerkerk, W J, Becher, J G, Wolf, N I & Buizer, A I 2019, ' Intrathecal baclofen in metachromatic leukodystrophy ', Developmental Medicine and Child Neurology, vol. 61, no. 2, pp. 232-235 . https://doi.org/10.1111/dmcn.13919
Developmental Medicine and Child Neurology
Van Der Veldt, N, Van Rappard, D F, Van De Pol, L A, Van Der Knaap, M S, Van Ouwerkerk, W J, Becher, J G, Wolf, N I & Buizer, A I 2019, ' Intrathecal baclofen in metachromatic leukodystrophy ', Developmental Medicine and Child Neurology, vol. 61, no. 2, pp. 232-235 . https://doi.org/10.1111/dmcn.13919
Developmental Medicine and Child Neurology
Metachromatic leukodystrophy (MLD) is a rare progressive neurological disorder, often accompanied by motor impairments that are challenging to treat. In this case series, we report the course of treatment with intrathecal baclofen (ITB), aimed at imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5533389d2e78f5c0cf231451eb236223
https://doi.org/10.1111/dmcn.13919
https://doi.org/10.1111/dmcn.13919
Autor:
Marjo S. van der Knaap, Marjan E. Steenweg, Diane F. van Rappard, Nicole I. Wolf, Jaap Oosterlaan, Marsh Königs, Jaap Jan Boelens, Petra J. W. Pouwels
Publikováno v:
Journal of Neurology
Journal of Neurology, 265(3), 659-668. D. Steinkopff-Verlag
van Rappard, D F, Königs, M, Steenweg, M E, Boelens, J J, Oosterlaan, J, van der Knaap, M S, Wolf, N I & Pouwels, P J W 2018, ' Diffusion tensor imaging in metachromatic leukodystrophy ', Journal of Neurology, vol. 265, no. 3, pp. 659-668 . https://doi.org/10.1007/s00415-018-8765-3
Journal of neurology, 265(3), 659-668. D. Steinkopff-Verlag
Journal of Neurology, 265(3), 659. D. Steinkopff-Verlag
Journal of Neurology, 265(3), 659-668. D. Steinkopff-Verlag
van Rappard, D F, Königs, M, Steenweg, M E, Boelens, J J, Oosterlaan, J, van der Knaap, M S, Wolf, N I & Pouwels, P J W 2018, ' Diffusion tensor imaging in metachromatic leukodystrophy ', Journal of Neurology, vol. 265, no. 3, pp. 659-668 . https://doi.org/10.1007/s00415-018-8765-3
Journal of neurology, 265(3), 659-668. D. Steinkopff-Verlag
Journal of Neurology, 265(3), 659. D. Steinkopff-Verlag
Objective We aimed to gain more insight into the pathomechanisms of metachromatic leukodystrophy (MLD), by comparing magnitude and direction of diffusion between patients and controls at diagnosis and during follow-up. Methods Four late-infantile, 16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e3728a178a1bd11093314c7741b742
http://www.scopus.com/inward/record.url?scp=85041184390&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85041184390&partnerID=8YFLogxK
Autor:
Marjo S. van der Knaap, Jaap Jan Boelens, Nicole I. Wolf, Carla E. M. Hollak, Annelou L. C. de Vries, Diane F. van Rappard, Kim J. Oostrom
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry, 57(2), 86-95. Elsevier Limited
van Rappard, D F, de Vries, A L C, Oostrom, K J, Boelens, J J, Hollak, C E M, van der Knaap, M S & Wolf, N I 2018, ' Slowly Progressive Psychiatric Symptoms : Think Metachromatic Leukodystrophy ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 57, no. 2, pp. 86-95 . https://doi.org/10.1016/j.jaac.2017.11.017
Journal of the American Academy of Child and Adolescent Psychiatry, 57(2), 74-76. Elsevier Limited
van Rappard, D F, de Vries, A L C, Oostrom, K J, Boelens, J J, Hollak, C E M, van der Knaap, M S & Wolf, N I 2018, ' Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 57, no. 2, pp. 86-95 . https://doi.org/10.1016/j.jaac.2017.11.017
van Rappard, D F, de Vries, A L C, Oostrom, K J, Boelens, J J, Hollak, C E M, van der Knaap, M S & Wolf, N I 2018, ' Slowly Progressive Psychiatric Symptoms : Think Metachromatic Leukodystrophy ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 57, no. 2, pp. 86-95 . https://doi.org/10.1016/j.jaac.2017.11.017
Journal of the American Academy of Child and Adolescent Psychiatry, 57(2), 74-76. Elsevier Limited
van Rappard, D F, de Vries, A L C, Oostrom, K J, Boelens, J J, Hollak, C E M, van der Knaap, M S & Wolf, N I 2018, ' Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy ', Journal of the American Academy of Child and Adolescent Psychiatry, vol. 57, no. 2, pp. 86-95 . https://doi.org/10.1016/j.jaac.2017.11.017
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0024c14ddab652eaffd9e30ac122b2b6
https://doi.org/10.1016/j.jaac.2017.11.017
https://doi.org/10.1016/j.jaac.2017.11.017
Autor:
Petra J. W. Pouwels, Diane F. van Rappard, Jaap Jan Boelens, Marianna Bugiani, Antoine Klauser, Nicole I. Wolf, Marjan E. Steenweg, Marjo S. van der Knaap
Publikováno v:
van Rappard, D F, Klauser, A, Steenweg, M E, Boelens, J J, Bugiani, M, van der Knaap, M S, Wolf, N I & Pouwels, P J W 2018, ' Quantitative MR spectroscopic imaging in metachromatic leukodystrophy : value for prognosis and treatment ', Journal of Neurology, Neurosurgery and Psychiatry, pp. 105-111 . https://doi.org/10.1136/jnnp-2017-316364
Journal of neurology, neurosurgery, and psychiatry, 89(1), 105. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 89(1), 105-111. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry, 105-111. BMJ Publishing Group
STARTPAGE=105;ENDPAGE=111;ISSN=0022-3050;TITLE=Journal of Neurology, Neurosurgery and Psychiatry
Journal of neurology, neurosurgery, and psychiatry, 89(1), 105. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 89(1), 105-111. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry, 105-111. BMJ Publishing Group
STARTPAGE=105;ENDPAGE=111;ISSN=0022-3050;TITLE=Journal of Neurology, Neurosurgery and Psychiatry
ObjectiveTo determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87683f21ad9821961c65f967270183db
https://pubmed.ncbi.nlm.nih.gov/28889092
https://pubmed.ncbi.nlm.nih.gov/28889092
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience
Autor:
Jaap Jan Boelens, Nicole I. Wolf, Jürgen Kuball, Marjo S. van der Knaap, Petra J. W. Pouwels, Martje E. van Egmond, Peter M. van Hasselt, Diane F. van Rappard, Kim J. Oostrom, Carla E. M. Hollak
Publikováno v:
van Rappard, D F, Boelens, J J, van Egmond, M E, Kuball, J, van Hasselt, P M, Oostrom, K J, Pouwels, P J W, van der Knaap, M S, Hollak, C E M & Wolf, N I 2016, ' Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience ', Blood, vol. 127, no. 24, pp. 3098-3101 . https://doi.org/10.1182/blood-2016-03-708479
Blood, 127(24), 3098-3101. American Society of Hematology
Blood, 127(24), 3098-3101. AMER SOC HEMATOLOGY
Blood, 127(24), 3098-3101. American Society of Hematology
Blood, 127(24), 3098-3101. AMER SOC HEMATOLOGY
To the editor: Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder caused by deficiency of arylsulfatase A,[1][1] leading to sulfatide accumulation and subsequent demyelination of the central and peripheral nervous system.[2][2],[3][3]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd17f583b250791b67da203b775fd16
https://research.vumc.nl/en/publications/3e9e0a8c-2b51-490e-a7df-4887b26789ac
https://research.vumc.nl/en/publications/3e9e0a8c-2b51-490e-a7df-4887b26789ac
Autor:
Gajja S. Salomons, Jonathan I.M.L. Verbeke, Alida F. W. van der Steeg, Tim G. J. de Meij, Nicole I. Wolf, Marjo S. van der Knaap, Peter M. van Hasselt, Diane F. van Rappard, Dirk J. Gouma, Freek Daams, Jaap Jan Boelens, Wim Van Hecke, Martine M.A.C. van Doorn, Marianna Bugiani, Carla E. M. Hollak
Publikováno v:
Neurology, 87(1), 103-111. Lippincott Williams and Wilkins
van Rappard, D F, Bugiani, M, Boelens, J J, van der Steeg, A, Daams, F, de Meij, T G J, van Doorn, M M A C, van Hasselt, P M, Gouma, D J, Verbeke, J I M L, Hollak, C E M, van Hecke, W, Salomons, G S, van der Knaap, M & Wolf, N I 2016, ' Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy ', Neurology, vol. 87, no. 1, pp. 103-111 . https://doi.org/10.1212/WNL.0000000000002811
van Rappard, D F, Bugiani, M, Boelens, J J, van der Steeg, A, Daams, F, de Meij, T G J, van Doorn, M M A C, van Hasselt, P M, Gouma, D J, Verbeke, J I M L, Hollak, C E M, van Hecke, W, Salomons, G S, van der Knaap, M & Wolf, N I 2016, ' Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy ', Neurology, vol. 87, no. 1, pp. 103-111 . https://doi.org/10.1212/WNL.0000000000002811
Objectives: To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD). Methods: We evaluated 34 patients with MLD (average age 16.7 years, age range 2–39 years) screened for gallbladder abnormalities by ultras
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b6e88ad6d7ab0781acc4cff720b349f
https://pure.amc.nl/en/publications/gallbladder-and-the-risk-of-polyps-and-carcinoma-in-metachromatic-leukodystrophy(9b81fa9a-19a6-4afd-b045-b493d2762184).html
https://pure.amc.nl/en/publications/gallbladder-and-the-risk-of-polyps-and-carcinoma-in-metachromatic-leukodystrophy(9b81fa9a-19a6-4afd-b045-b493d2762184).html
Publikováno v:
Baillière's Best Practice and Research. Clinical Endocrinology and Metabolism, 29(2), 261-273. Bailliere Tindall Ltd
van Rappard, D F, Boelens, J J & Wolf, N I 2015, ' Metachromatic leukodystrophy: Disease spectrum and approaches for treatment ', Baillière's Best Practice and Research. Clinical Endocrinology and Metabolism, vol. 29, no. 2, pp. 261-273 . https://doi.org/10.1016/j.beem.2014.10.001
Best Practice and Research. Clinical Endocrinology and Metabolism, 29(2), 261. Bailliere Tindall Ltd
van Rappard, D F, Boelens, J J & Wolf, N I 2015, ' Metachromatic leukodystrophy: Disease spectrum and approaches for treatment ', Baillière's Best Practice and Research. Clinical Endocrinology and Metabolism, vol. 29, no. 2, pp. 261-273 . https://doi.org/10.1016/j.beem.2014.10.001
Best Practice and Research. Clinical Endocrinology and Metabolism, 29(2), 261. Bailliere Tindall Ltd
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system lea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2392557d81483d23735e81efce030718
https://pubmed.ncbi.nlm.nih.gov/25987178
https://pubmed.ncbi.nlm.nih.gov/25987178
Autor:
Pim de Graaf, Jan Mendelt Tillema, Frederik Barkhof, Marloes G.M. Derks, Diane F. van Rappard, Marjan E. Steenweg, Nicole I. Wolf, Marjo S. van der Knaap, Petra J. W. Pouwels
Publikováno v:
Tillema, J M, Derks, M G M, Pouwels, P J W, de Graaf, P, van Rappard, D F, Barkhof, F, Steenweg, M E, van der Knaap, M S & Wolf, N I 2015, ' Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy ', Annals of Clinical and Translational Neurology, vol. 2, no. 9, pp. 932-940 . https://doi.org/10.1002/acn3.232
Annals of Clinical and Translational Neurology, 2(9), 932-940. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 2(9), 932-940. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 2(9), 932-940. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 2(9), 932-940. John Wiley and Sons Ltd
OBJECTIVE: Metachromatic leukodystrophy (MLD) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective MRI study investigated the extent of cortical involvem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a0d966fa3268d50348b426cbe0de3a0
https://hdl.handle.net/1871.1/92254767-7dfe-420d-8a0e-bb62d07d1e54
https://hdl.handle.net/1871.1/92254767-7dfe-420d-8a0e-bb62d07d1e54