FAQ

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

Related topics

Related topics

49 relations
Acquired cubitus valgusAminoaciduriaAutosomal recessive inheritanceBreech Presentation
(More)

Broader (6)

Congenital anomaly of brainCongenital disease of brainLiver diseasesSyndrome
(More)

Narrower (1)

Pseudo-Zellweger syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Zellweger Syndrome
Nervous system structure
Seizures
Liver diseases
Glaucoma
Cataract

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Earlier onset of puberty in girls: relation to increased body mass index and race.
OBJECTIVE A recent study conducted by the Pediatric Research in Office Settings network provided evidence that girls in the… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse).
Zellweger syndrome (cerebro-hepato-renal syndrome) is the most severe form of the peroxisomal biogenesis disorders leading to… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
Peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome (ZS), are autosomal recessive diseases caused by a… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
A mouse model for Zellweger syndrome
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix… (More)
Is this relevant?
Highly Cited
1992
Highly Cited
1992
A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human… (More)
Is this relevant?
Highly Cited
1988
Highly Cited
1988
Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly.
Peroxisomes are apparently missing in Zellweger syndrome; nevertheless, some of the integral membrane proteins of the organelle… (More)
Is this relevant?
1986
1986
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.
We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal… (More)
Is this relevant?
1984
1984
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.
The activity of peroxisomal enzymes was studied in human liver and cultured human skin fibroblasts in relation to the finding… (More)
Is this relevant?
Highly Cited
1983
Highly Cited
1983
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).
The Zellweger syndrome is a lethal hereditary disease characterized by the absence of peroxisomes (microbodies) in liver and… (More)
Is this relevant?
1979
1979
Defects of bile acid synthesis in Zellweger's syndrome.
Abnormal mitochondrial structure and function have been documented in patients with Zellweger's syndrome (cerebrohepatorenal… (More)
Is this relevant?