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.
Adrenoleukodystrophy.
Engelen M, Kemp S, Eichler F.
Handb Clin Neurol. 2024;204:133-138. doi: 10.1016/B978-0-323-99209-1.00022-3.
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT.
Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0.
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA.
Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013.
An update on the diagnosis and treatment of adrenoleukodystrophy.
Gujral J, Sethuram S.
Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):44-51. doi: 10.1097/MED.0000000000000782. Epub 2022 Nov 14.
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.
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.
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.
Endocrine dysfunction in adrenoleukodystrophy.
Engelen M, Kemp S, Eichler F.
Handb Clin Neurol. 2021;182:257-267. doi: 10.1016/B978-0-12-819973-2.00018-6.
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.
