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Zellweger Syndrome
Known as:
PBD1A
, Zellweger's Syndrome
, Cerebro-Hepato-Renal Syndrome
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An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the…
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National Institutes of Health
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Related topics
Related topics
48 relations
Acquired cubitus valgus
Aminoaciduria
Autosomal recessive inheritance
Breech Presentation
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Broader (7)
Congenital anomaly of brain
Congenital disease of brain
Hereditary Diseases
Liver diseases
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Narrower (1)
Pseudo-Zellweger syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
CLASH: THE ENHANCED LENSING EFFICIENCY OF THE HIGHLY ELONGATED MERGING CLUSTER MACS J0416.1−2403
A. Zitrin
,
M. Meneghetti
,
+24 authors
W. Zheng
2012
Corpus ID: 119224200
We perform a strong lensing analysis of the merging galaxy cluster MACS J0416.1−2403 (M0416; z = 0.42) in recent CLASH/HST…
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Highly Cited
2001
Highly Cited
2001
Modeling and imaging with the scalar generalized‐screen algorithms in isotropic media
J. Rousseau
,
M. V. Hoop
2001
Corpus ID: 129308525
The phase‐screen and the split‐step Fourier methods, which allow modeling and migration in laterally heterogeneous media, are…
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Highly Cited
1989
Highly Cited
1989
Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome.
R. Zoeller
,
L. Allen
,
+4 authors
C. Raetz
Journal of Biological Chemistry
1989
Corpus ID: 40468574
We have previously reported the isolation of Chinese hamster ovary (CHO) cell mutants that are defective in the biosynthesis of…
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Review
1986
Review
1986
How proteins get into microbodies (peroxisomes, glyoxysomes, glycosomes).
Piet Borst
Biochimica et Biophysica Acta
1986
Corpus ID: 45371337
Highly Cited
1986
Highly Cited
1986
Blood rheology in myocardial infarction and hypertension.
S. Chien
Biorheology
1986
Corpus ID: 23323018
Blood rheology was studied in patients with acute myocardial infarction (AMI) and essential hypertension (EH), and the results…
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Highly Cited
1984
Highly Cited
1984
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
A. Poulos
,
P. Sharp
,
M. Whiting
Clinical Genetics
1984
Corpus ID: 38821991
The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro‐hepato‐renal (Zellweger…
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Highly Cited
1984
Highly Cited
1984
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.
N. Datta
,
Golder N Wilson
,
A. Hajra
New England Journal of Medicine
1984
Corpus ID: 30389053
The Zellweger cerebro-hepato-renal syndrome is a genetic disease characterized by the absence of peroxisomes and deficiency of…
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Highly Cited
1981
Highly Cited
1981
An introduction to statistical energy analysis of structural vibration
J. Woodhouse
1981
Corpus ID: 46568170
Highly Cited
1976
Highly Cited
1976
Effects of 5-hydroxytryptamine and bradykinin in cat dorsal horn neurones activated by noxious stimuli
M. Randic´
,
Henry H. Yu
Brain Research
1976
Corpus ID: 29749365
Highly Cited
1975
Highly Cited
1975
The high-density multiwire drift chamber
A. Jeavons
,
G. Charpak
,
R. Stubbs
1975
Corpus ID: 390713
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