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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… 
National Institutes of Health

Related topics

Related topics

6 relations
Hyperpipecolic AcidemiaInborn Errors of MetabolismNeonatal disorderNervous system structure

Broader (1)

Peroxisomal Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2000
Review
2000
Peroxisome biogenesis disorders: genetics and cell biology.
Highly Cited
1998
Highly Cited
1998
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6… 
Highly Cited
1992
Highly Cited
1992
Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders
Review
1988
Review
1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by… 
Highly Cited
1988
Highly Cited
1988
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
Review
1988
Review
1988
Peroxisomal disorders in neurology
1987
1987
The subcellular localization of phytanic acid oxidase in rat liver.
Review
1986
Review
1986
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Eight new cases of autopsy-confirmed or suspected neonatal adrenoleukodystrophy (NALD) are presented together with new… 
Highly Cited
1986
Highly Cited
1986
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Highly Cited
1986
Highly Cited
1986
Medium- and Long-Chain Dicarboxylic Aciduria in Patients with Zellweger Syndrome and Neonatal Adrenoleukodystrophy
ABSTRACT. This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar… 
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