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名词信息
中 文 名:
异染性脑白质营养不良
英 文 名:
metachromatic leukodystrophy
中文又称:
中文曾称:
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所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
metachromatic leukodystrophy
相关文献:
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, Biffi A.
Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4.
PMID:26462614
Atidarsagene autotemcel for metachromatic leukodystrophy.
Messina M, Gissen P.
Drugs Today (Barc). 2023 Feb;59(2):63-70. doi: 10.1358/dot.2023.59.2.3461911.
PMID:36811406
Metachromatic leukodystrophy--an update.
Gieselmann V, Krägeloh-Mann I.
Neuropediatrics. 2010 Feb;41(1):1-6. doi: 10.1055/s-0030-1253412. Epub 2010 Jun 22.
PMID:20571983
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT.
Genome Biol. 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z.
PMID:37480112
Metachromatic leukodystrophy: A story of hope woven from sorrow.
Adang L.
Mol Ther. 2024 May 1;32(5):1179. doi: 10.1016/j.ymthe.2024.04.008. Epub 2024 Apr 16.
PMID:38631350
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
van Rappard DF, Boelens JJ, Wolf NI.
Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):261-73. doi: 10.1016/j.beem.2014.10.001. Epub 2014 Oct 16.
PMID:25987178
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Beerepoot S, Nierkens S, Boelens JJ, Lindemans C, Bugiani M, Wolf NI.
Orphanet J Rare Dis. 2019 Nov 4;14(1):240. doi: 10.1186/s13023-019-1220-4.
PMID:31684987
Gene therapy for metachromatic leukodystrophy.
Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D.
J Neurosci Res. 2016 Nov;94(11):1169-79. doi: 10.1002/jnr.23792.
PMID:27638601
Metachromatic leukodystrophy: recent research developments.
Gieselmann V.
J Child Neurol. 2003 Sep;18(9):591-4. doi: 10.1177/08830738030180090301.
PMID:14572136
Gallbladder Polyps in Metachromatic Leukodystrophy.
Almarzooqi S, Quadri A, Albawardi A.
Fetal Pediatr Pathol. 2018 Apr;37(2):102-108. doi: 10.1080/15513815.2018.1424277. Epub 2018 Mar 1.
PMID:29494779
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