Artigos Científicos Novos Sobre Adrenoleucodistrofia com Texto Completo

Artigos em português

Autor(es): Mendonça, José Luiz Furtado de Fonte: Brasília méd;44(1): 73-74, 2007. ilus Assunto(s): Humanos; Masculino; Pré-E…

Brasília méd;44(1): 73-74, 2007. ilus

Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging

OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imagin…

Arq Neuropsiquiatr;64(4): 1033-1035, dez. 2006. ilus.

Insuficiência adrenal primária na infância

A insuficiência adrenal primária manifesta-se raramente na infância, podendo apresentar-se de forma insidiosa ou aguda, especia…

Arq Bras Endocrinol Metabol;48(5): 739-745, out. 2004. tab

Insuficiencia adrenal primária de causa genética

A insuficiência adrenal primária pode resultar em uma situaçäo de risco de vida, quando näo tratada ou quando o paciente é s…

Arq Bras Endocrinol Metabol;46(4): 478-489, ago. 2002.

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Artigos em inglês

PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome. novo

Peroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contain a highly diverse…

Nucleic Acids Res;38(Database issue): D800-5, 2010 Jan.

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect mul…

Hum Mutat;30(3): E467-80, 2009 Mar.

Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin.

In cerebral adrenoleukodystrophy (cALD), an accumulation of very long chain fatty acids stems from a defect of the peroxisomal ALD…

J Neurochem;106(4): 1766-79, 2008 Aug.

Auditory function in adrenomyeloneuropathy.

Auditory brainstem responses (ABR), ipsilateral and contralateral acoustic reflexes and the masking level difference for speech (M…

J Neurol Sci;269(1-2): 24-9, 2008 Jun 15.

Lipopolysaccharide-induced peroxisomal dysfunction exacerbates cerebral white matter injury: attenuation by N-acetyl cysteine.

Cerebral white matter injury during prenatal maternal infection characterized as periventricular leukomalacia is the main substrat…

Exp Neurol;210(2): 560-76, 2008 Apr.

Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts.

X-Adrenoleukodystrophy (X-ALD) is a peroxisomal disorder characterized by accumulation of very-long-chain (VLC) fatty acids, which…

Dev Neurosci;30(6): 410-8, 2008.

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.

Peroxisomes are essential organelles of eukaryotic origin, ubiquitously distributed in cells and organisms, playing key roles in l…

Nucleic Acids Res;35(Database issue): D815-22, 2007 Jan.

Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans.

The function of the peroxisomes was examined in the pathogenic basidiomycete Cryptococcus neoformans. Recent studies reveal the gl…

Eukaryot Cell;6(1): 60-72, 2007 Jan.

Peroxisome function regulates growth on glucose in the basidiomycete fungus Cryptococcus neoformans.

The function of the peroxisomes was examined in the pathogenic basidiomycete Cryptococcus neoformans. Recent studies reveal the gl…

Eukaryot Cell;6(1): 60-72, 2007 Jan.

Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.

OBJECTIVE: To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are…

J R Soc Med;99(5): 245-9, 2006 May.

Bone marrow transplantation in patients with storage diseases: a developing country experience.

Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight…

Arq Neuropsiquiatr;64(1): 1-4, 2006 Mar.

Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system.

In humans, mutations inactivating multifunctional protein-2 (MFP-2), and thus peroxisomal beta-oxidation, cause neuronal heterotop…

Am J Pathol;168(4): 1321-34, 2006 Apr.

Bone marrow transplantation in patients with storage diseases: a developing country experience

O transplante de medula óssea é uma opção terapêutica para os pacientes com doenças de acúmulo. Entre 1979 e 2002, oito pac…

Arq Neuropsiquiatr;64(1): 1-4, mar. 2006. tab.

Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging.

OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imagin…

Arq Neuropsiquiatr;64(4): 1033-5, 2006 Dec.

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

OBJECTIVE: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of p…

J Med Genet;42(9): e58, 2005 Sep.

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesi…

Am J Hum Genet;76(6): 987-1007, 2005 Jun.

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