Zobrazeno 1 - 10
of 33
pro vyhledávání: '"adult metachromatic leukodystrophy"'
Publikováno v:
Klinik Psikiyatri Dergisi, Vol 26, Iss 1, Pp 69-75 (2023)
Metachromatic leukodystrophy is a rare inherited disorder of the nervous system with great clinical variability characterized by loss of both cognitive and motor functions upon extensive white matter damage by the accumulation of sulfatides. Although
Externí odkaz:
https://doaj.org/article/cc7c447a3af84a77a68ed300b36cc238
Autor:
Cecilie Videbæk, Jette Stokholm, Henrik Sengeløv, Lone U. Fjeldborg, Vibeke Andrée Larsen, Christian Krarup, Jørgen E. Nielsen, Sabine Grønborg
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 96-104 (2021)
Abstract Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed an
Externí odkaz:
https://doaj.org/article/b196cde2a6604a158ceb93c111aa079e
Autor:
Henrik Sengeløv, Christian Krarup, Sabine Grønborg, Cecilie Videbæk, Jette Stokholm, Lone U Fjeldborg, Vibeke Andrée Larsen, Jørgen E. Nielsen
Publikováno v:
JIMD Reports
Videbæk, C, Stokholm, J, Sengeløv, H, Fjeldborg, L U, Larsen, V A, Krarup, C, Nielsen, J E & Grønborg, S 2021, ' Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review ', JIMD Reports, vol. 60, no. 1, pp. 96-104 . https://doi.org/10.1002/jmd2.12221
JIMD Reports, Vol 60, Iss 1, Pp 96-104 (2021)
Videbæk, C, Stokholm, J, Sengeløv, H, Fjeldborg, L U, Larsen, V A, Krarup, C, Nielsen, J E & Grønborg, S 2021, ' Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review ', JIMD Reports, vol. 60, no. 1, pp. 96-104 . https://doi.org/10.1002/jmd2.12221
JIMD Reports, Vol 60, Iss 1, Pp 96-104 (2021)
Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transpl
Akademický článek
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Publikováno v:
MMJ-A Journal by MIMER Medical College, Pune, India. 2:41-43
Akademický článek
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Autor:
B.P.C. van de Warrenburg, Anton Schattenberg, D. J. Lefeber, Dietger Niederwieser, Nicole M. A. Blijlevens, Wil A. Allebes, Nicolaas Schaap, B.A. van der Reijden, Haifa Kathrin Al-Ali, Hannie Kremer, Frank Preijers, L. D. de Hosson
Publikováno v:
Bone Marrow Transplantation, 46, 1071-6
Bone Marrow Transplantation, 46, 8, pp. 1071-6
Bone Marrow Transplantation, 46, 8, pp. 1071-6
Five patients with adult-onset metachromatic leukodystrophy (MLD) underwent allo-SCT. Conditioning was reduced in intensity and grafts were obtained from voluntary unrelated donors. All but one graft were depleted of T-lymphocytes. Patient age at tra
Publikováno v:
Acta Neuropathologica. 33:165-171
The fine structural characteristics of storage products in peripheral nerve, kidney and cerebral white matter, from a case of adult metachromatic leukodystrophy are described. There were pronounced differences from the fine structural aspects in late
Publikováno v:
Clinical Neurology and Neurosurgery. 80:174-188
Summary The authors describe an investigation of Adult Metachromatic Leukodystrophy in a Dutch family, of which two persons were affected. The studies of leukocyte arylsulphatase-A activity were made in 47 members of 4 generations of the same family.
Publikováno v:
European Neurology. 15:308-317
Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastr