Associated Papers
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE et al.
European Journal of Human Genetics : Ejhg, 2016
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT et al.
Orphanet Journal of Rare Diseases, 2014
24410807 (PubMed )
Supplement: 1750-1172-9-6-S1.pdf
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 2012
Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
Dohle CI et al.
Journal of the Neurological Sciences, 2009
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Bonilla Guerrero R et al.
Journal of Inherited Metabolic Disease, 2008
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Guimarães CP et al.
Molecular Genetics and Metabolism, 2002
Bálint syndrome as the presenting manifestation of adrenoleukodystrophy.
Ghosh R et al.
Neurology Perspectives, 0
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
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