Infantile Refsum Disease (disorder)

Known as: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL, PBD1B, Infantile Refsum's Disease 
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain… (More)

Topic mentions per year

Topic mentions per year

1950-2017
012319502016

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2018
2018
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger… (More)
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2017
2017
Background:Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological… (More)
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2015
2015
Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non… (More)
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2013
2013
We identified the first patient with infantile Refsum disease (IRD), a milder phenotype of peroxisome biogenesis disorder (PBD… (More)
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2004
2004
The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in… (More)
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2004
2004
The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in… (More)
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1993
1993
ABSTRACT: Zellweger syndrome, neonatal adrenoleuko-dystrophy, and infantile Refsum's disease are genetic disorders characterized… (More)
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1991
1991
Refsum disease (RD) is a rare autosomal recessive disorder characterized by an accumulation of phytanic acid . A variant of this… (More)
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1986
1986
We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light… (More)
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1984
1984
Refsum's disease is caused by deficient activity of phytanic acid a oxidase; phytanic acid may account for 30% of plasma fatty… (More)
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