References

1. Aubourg P. « Adrénoleucodystrophie liée à l'X ». Ann Endocrinol. déc 2007; 68(6): p 403-411. Google Scholar


2. Aubourg Pet al. « Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation ». N Engl J Med. Juin 1990; 322(26): p1860-1866. Google Scholar


3. Singh I et Pujol A. « Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis ». Brain Pathol Zurich Switz. Juill 2010; 20(4): p 838-844. Google Scholar


4. Moser H W, Mahmood A et Raymond G V. « X-linked adrenoleukodystrophy ». Nat Clin PractNeurol. Mars 2007; 3(3): p 140-151. PubMed | Google Scholar


5. Moser HW et al. « Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids ». Neurology. Oct 1981; 31(10): 1241-1249. Google Scholar


6. Berger J, Forss-Petter S et Eichler FS. « Pathophysiology of X-linked adrenoleukodystrophy ». Biochimie. Mars 2014; 98: p 135-142. PubMed | Google Scholar


7. Kemp S, Berger J, Aubourg P. « X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects ». Biochim Biophys Acta BBA-Mol Basis Dis. Sept 2012; vol 1822(9): p 1465-1474. PubMed | Google Scholar


8. Bezman L et Moser H W. « Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes ». Am J Med Genet. Avr 1998;76 (5): p 415-419. Google Scholar


9. Bezman L et al. « Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening ». Ann Neurol. Avr 2001; 49(4): p 512-517. Google Scholar


10. Peters S et al. « Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999 ». Blood. Août 2004;104(3): p881-888. Google Scholar


11. Melhem ER, Barker PB, Raymond GV et Moser HW. « X-linked adrenoleukodystrophy in children: review of genetic, clinical, and MR imaging characteristics ». AJR Am J Roentgenol. Déc 1999;173(6): 1575-1581. PubMed | Google Scholar


12. Hubbard W C et al. « Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method ». Mol Genet Metab. Juill 2009; 97(3): p212-220. Google Scholar


13. Klouwer FCCet al. « Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders ». Neuropediatrics. Août 2016;47(4): p205-220. Google Scholar


14. SemmlerA, Köhler W, Jung HH, WellerM et Linnebank M. « Therapy of X-linked adrenoleukodystrophy ». Expert Rev Neurother. Sept 2008; 8(9):1367-1379. Google Scholar


15. LourençoCM, Simão GN, SantosAC, Marques W Jr. « X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers ». Arq Neuropsiquiatr. Juill 2012 ;70(7): p 487-491. PubMed | Google Scholar


16. Restuccia D et al. « Neurophysiological abnormalities in adrenoleukodystrophy carriers: evidence of different degrees of central nervous system involvement ». Brain J Neurol. Juill 1997;120 (Pt 7): p 1139-1148. Google Scholar


17. Engelen M et al.« X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management ». Orphanet J Rare Dis. 2012;7: p 51. Google Scholar