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adult cerebaral adrenoleukodystrophy相关文献:
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C.
Front Endocrinol (Lausanne). 2023 Nov 16;14:1309053. doi: 10.3389/fendo.2023.1309053. eCollection 2023.
PMID:38034003
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC.
Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29.
PMID:36175155
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW.
Hum Mutat. 2001 Dec;18(6):499-515. doi: 10.1002/humu.1227.
PMID:11748843
Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.
Golse M, Weinhofer I, Blanco B, Barbier M, Yazbeck E, Huiban C, Chaumette B, Pichon B, Fatemi A, Pascual S, Martinell M, Berger J, Perlbarg V, Galanaud D, Mochel F.
Brain. 2024 Oct 3;147(10):3344-3351. doi: 10.1093/brain/awae169.
PMID:38832897
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.
Orphanet J Rare Dis. 2012 Aug 13;7:51. doi: 10.1186/1750-1172-7-51.
PMID:22889154
The neuropsychiatry of adult-onset adrenoleukodystrophy.
Rosebush PI, Garside S, Levinson AJ, Mazurek MF.
J Neuropsychiatry Clin Neurosci. 1999 Summer;11(3):315-27. doi: 10.1176/jnp.11.3.315.
PMID:10440007
Adult-Onset Adrenoleukodystrophy Presenting With Atypical Location of White Matter Lesions.
Sehrawat P, Gupta A, Garg A, Vishnu V, Rajan R, Bhatia R, Singh MB, Srivastava MVP.
Neurology. 2022 Dec 5;99(23):1051-1052. doi: 10.1212/WNL.0000000000201437.
PMID:36180238
Adrenoleukodystrophy.
Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S.
Endocr Dev. 2011;20:149-160. doi: 10.1159/000321236. Epub 2010 Dec 16.
PMID:21164268
X-linked cerebral adrenoleukodystrophy.
Weldrick CL, Boers P, Kiely P, O'Halloran L.
BMJ Case Rep. 2023 Oct 31;16(10):e237905. doi: 10.1136/bcr-2020-237905.
PMID:37907311
Cognitive Functions in Adult-Onset Phenotypes of X-Linked Adrenoleukodystrophy.
Schäfer L, Roicke H, Fischer M, Sühnel A, Köhler W.
Ann Neurol. 2021 Aug;90(2):266-273. doi: 10.1002/ana.26141. Epub 2021 Jun 26.
PMID:34105176
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