These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring. Bonaventura E; Alberti L; Lucchi S; Cappelletti L; Fazzone S; Cattaneo E; Bellini M; Izzo G; Parazzini C; Bosetti A; Di Profio E; Fiore G; Ferrario M; Mameli C; Sangiorgio A; Masnada S; Zuccotti GV; Veggiotti P; Spaccini L; Iascone M; Verduci E; Cereda C; Tonduti D; Front Neurol; 2022; 13():1072256. PubMed ID: 36698902 [TBL] [Abstract][Full Text] [Related]
6. 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; 99(21):940-951. PubMed ID: 36175155 [TBL] [Abstract][Full Text] [Related]
7. Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy. Richmond PA; van der Kloet F; Vaz FM; Lin D; Uzozie A; Graham E; Kobor M; Mostafavi S; Moerland PD; Lange PF; van Kampen AHC; Wasserman WW; Engelen M; Kemp S; van Karnebeek CDM Front Cell Dev Biol; 2020; 8():520. PubMed ID: 32671069 [TBL] [Abstract][Full Text] [Related]
8. The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology. Yska HAF; Engelen M; Bugiani M Orphanet J Rare Dis; 2024 Mar; 19(1):138. PubMed ID: 38549180 [TBL] [Abstract][Full Text] [Related]
9. The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy. Piercy H; Nutting C Child Care Health Dev; 2024 Jan; 50(1):e13184. PubMed ID: 37850425 [TBL] [Abstract][Full Text] [Related]
11. A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy. Mallack EJ; Askin G; van de Stadt S; Caruso PA; Musolino PL; Engelen M; Niogi SN; Eichler FS AJNR Am J Neuroradiol; 2021 Oct; 42(10):1904-1911. PubMed ID: 34503945 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 11748843 [TBL] [Abstract][Full Text] [Related]
14. Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). Fuchs S; Sarde CO; Wedemann H; Schwinger E; Mandel JL; Gal A Hum Mol Genet; 1994 Oct; 3(10):1903-5. PubMed ID: 7849723 [No Abstract] [Full Text] [Related]
15. Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy. Pereira Fdos S; Matte U; Habekost CT; de Castilhos RM; El Husny AS; Lourenço CM; Vianna-Morgante AM; Giuliani L; Galera MF; Honjo R; Kim CA; Politei J; Vargas CR; Jardim LB PLoS One; 2012; 7(3):e34195. PubMed ID: 22479560 [TBL] [Abstract][Full Text] [Related]
16. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Lachtermacher MB; Seuánez HN; Moser AB; Moser HW; Smith KD Hum Mutat; 2000; 15(4):348-53. PubMed ID: 10737980 [TBL] [Abstract][Full Text] [Related]
17. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Asheuer M; Bieche I; Laurendeau I; Moser A; Hainque B; Vidaud M; Aubourg P Hum Mol Genet; 2005 May; 14(10):1293-303. PubMed ID: 15800013 [TBL] [Abstract][Full Text] [Related]
18. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Ligtenberg MJ; Kemp S; Sarde CO; van Geel BM; Kleijer WJ; Barth PG; Mandel JL; van Oost BA; Bolhuis PA Am J Hum Genet; 1995 Jan; 56(1):44-50. PubMed ID: 7825602 [TBL] [Abstract][Full Text] [Related]