Adrenoleukodystrophy, Neonatal

Known as: Adrenoleukodystrophies, Neonatal, Neonatal Adrenoleukodystrophies, Neonatal adrenoleukodystrophy 
A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal… (More)
National Institutes of Health

Papers overview

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Highly Cited
2003
Highly Cited
2003
Peroxisomes are ubiquitous organelles with a single membrane that contain over 50 different enzymes that catalyse various… (More)
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Highly Cited
2001
Highly Cited
2001
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overlapping… (More)
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Highly Cited
1999
Highly Cited
1999
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used… (More)
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1998
1998
Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6… (More)
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Review
1998
Review
1998
Neurological dysfunction is a prominent feature of most peroxisomal disorders. Enormous progress in defining their gene defects… (More)
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Highly Cited
1998
Highly Cited
1998
The peroxisome-biogenesis disorders (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by… (More)
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1986
1986
ABSTRACT. This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar… (More)
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1986
1986
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe… (More)
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1986
1986
Biologic, morphologic, and biochemical investigations performed in 2 patients demonstrate multiple peroxisomal deficiencies in… (More)
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1984
1984
Serum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex-linked ALD, and the… (More)
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