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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… Expand
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… Expand
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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… Expand
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Highly Cited
1998
Highly Cited
1998
Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6… Expand
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1997
1997
Summary: Purpose: To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients… Expand
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Highly Cited
1995
Highly Cited
1995
Two peroxisomal targeting signals, PTS1 and PTS2, are involved in the import of proteins into the peroxisome matrix. Human… Expand
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Highly Cited
1995
Highly Cited
1995
OBJECTIVE To use the technique of complementation analysis to help define genotype and classify patients with clinical… Expand
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1988
1988
Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and… Expand
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Highly Cited
1986
Highly Cited
1986
ABSTRACT. This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar… Expand
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Highly Cited
1985
Highly Cited
1985
SummaryCerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at… Expand
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1984
1984
Serum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex-linked ALD, and the… Expand
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