FAQ

Peroxisomal Disorders

Known as: Peroxisomal Disorders [Disease/Finding], Peroxisomal Function Disorder, Peroxisomal Disorder 
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1957-2018
010203019572017

Related topics

Related topics

27 relations

Narrower (18)

Adrenoleukodystrophy, NeonatalHyperpipecolic AcidemiaPeroxisome Biogenesis Disorder, Complementation Group 1Peroxisome Biogenesis Disorder, Complementation Group 11
(More)
In BloodInborn Errors of MetabolismMicrobiologicalPediatric Terminology
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Peroxisomal Disorders
radiotherapeutic
peroxisome
prevention & control
Microbiological
nursing therapy

Papers overview

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Highly Cited
2008
Highly Cited
2008
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
Peroxisomes play a major role in human cellular lipid metabolism, including the beta-oxidation of fatty acids. The most frequent… (More)
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1999
1999
Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders
The demonstration of abnormal levels of fatty acids or plasmalogens in plasma or red blood cells is key to the diagnosis of… (More)
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Highly Cited
1996
Highly Cited
1996
The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene.
The import of peroxisomal matrix proteins is dependent on one of two targeting signals, PTS1 and PTS2. We demonstrate in vivo… (More)
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1996
1996
Metabolic aspects of peroxisomal disorders.
In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in one or… (More)
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Highly Cited
1995
Highly Cited
1995
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders
Two peroxisomal targeting signals, PTS1 and PTS2, are involved in the import of proteins into the peroxisome matrix. Human… (More)
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Highly Cited
1995
Highly Cited
1995
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
OBJECTIVE To use the technique of complementation analysis to help define genotype and classify patients with clinical… (More)
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Highly Cited
1993
Highly Cited
1993
The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting…
We previously described the isolation of mutants of the yeast Pichia pastoris that are deficient in peroxisome assembly (pas… (More)
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1991
1991
The MR spectrum of peroxisomal disorders
In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the… (More)
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1988
1988
Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more… (More)
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Highly Cited
1986
Highly Cited
1986
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were… (More)
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