Zellweger Syndrome

Known as: PBD1A, Zellweger's Syndrome, Cerebro-Hepato-Renal Syndrome 
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the… (More)

Topic mentions per year

Topic mentions per year

1967-2017
020406019672017

Papers overview

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Highly Cited
2001
Highly Cited
2001
OBJECTIVE A recent study conducted by the Pediatric Research in Office Settings network provided evidence that girls in the… (More)
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Highly Cited
2001
Highly Cited
2001
Zellweger syndrome (cerebro-hepato-renal syndrome) is the most severe form of the peroxisomal biogenesis disorders leading to… (More)
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Highly Cited
1998
Highly Cited
1998
Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a… (More)
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Highly Cited
1997
Highly Cited
1997
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix… (More)
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Highly Cited
1992
Highly Cited
1992
The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human… (More)
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Highly Cited
1988
Highly Cited
1988
Peroxisomes are apparently missing in Zellweger syndrome; nevertheless, some of the integral membrane proteins of the organelle… (More)
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1986
1986
We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal… (More)
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1984
1984
The activity of peroxisomal enzymes was studied in human liver and cultured human skin fibroblasts in relation to the finding… (More)
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Highly Cited
1983
Highly Cited
1983
The Zellweger syndrome is a lethal hereditary disease characterized by the absence of peroxisomes (microbodies) in liver and… (More)
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1979
1979
Abnormal mitochondrial structure and function have been documented in patients with Zellweger's syndrome (cerebrohepatorenal… (More)
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