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Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Orphanet J Rare Dis. 2014 Jan 13;9:6. doi: 10.1186/1750-1172-9-6.
Orphanet J Rare Dis. 2014.
PMID: 24410807
Free PMC article.
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.
Pereira Fdos S, et al.
PLoS One. 2012;7(3):e34195. doi: 10.1371/journal.pone.0034195. Epub 2012 Mar 29.
PLoS One. 2012.
PMID: 22479560
Free PMC article.
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New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.
Mayer FQ, Pereira Fdos S, Fensom AH, Slade C, Matte U, Giugliani R.
Mayer FQ, et al. Among authors: pereira fdos s.
Mol Genet Metab. 2009 Mar;96(3):148. doi: 10.1016/j.ymgme.2008.11.159. Epub 2008 Dec 16.
Mol Genet Metab. 2009.
PMID: 19091613
No abstract available.
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