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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.
Review
2018
Review
2018
The Psychology of Esports: A Systematic Literature Review
Fanni Bányai
,
M. Griffiths
,
O. Király
,
Z. Demetrovics
Journal of Gambling Studies
2018
Corpus ID: 3683774
Recently, the skill involved in playing and mastering video games has led to the professionalization of the activity in the form…
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Review
2018
Review
2018
Bidirectional Microglia–Neuron Communication in Health and Disease
Z. Szepesi
,
Oscar Manouchehrian
,
S. Bachiller
,
T. Deierborg
Front. Cell. Neurosci.
2018
Corpus ID: 52843345
Microglia are ramified cells that exhibit highly motile processes, which continuously survey the brain parenchyma and react to…
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Review
2018
Review
2018
Does the medical literature remain inadequately described despite having reporting guidelines for 21 years? – A systematic review of reviews: an update
Yanling Jin
,
Nitika Sanger
,
+18 authors
Z. Samaan
Journal of multidisciplinary healthcare
2018
Corpus ID: 52960213
Purpose Reporting guidelines (eg, Consolidated Standards of Reporting Trials [CONSORT] statement) are intended to improve…
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Highly Cited
2008
Highly Cited
2008
Estimating Cross-Country Differences in Product Quality
J. C. Hallak
,
Peter K. Schott
2008
Corpus ID: 4808394
We develop a method for decomposing countries' observed export prices into quality versus quality-adjusted-price components using…
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Review
2002
Review
2002
Genetics and pathogenesis of polycystic kidney disease.
P. Igarashi
,
S. Somlo
Journal of the American Society of Nephrology…
2002
Corpus ID: 26398315
Eberhard Ritz Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in children and adults, is…
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Highly Cited
2001
Highly Cited
2001
Earlier onset of puberty in girls: relation to increased body mass index and race.
P. Kaplowitz
,
E. Slora
,
R. Wasserman
,
S. Pedlow
,
M. Herman-Giddens
Pediatrics
2001
Corpus ID: 22073186
OBJECTIVE A recent study conducted by the Pediatric Research in Office Settings network provided evidence that girls in the…
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Review
2000
Review
2000
Alterations in shoulder kinematics and associated muscle activity in people with symptoms of shoulder impingement.
P. Ludewig
,
T. Cook
Physical therapy
2000
Corpus ID: 26901707
BACKGROUND AND PURPOSE Treatment of patients with impingement symptoms commonly includes exercises intended to restore "normal…
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Highly Cited
1997
Highly Cited
1997
A mouse model for Zellweger syndrome
Myriam Baes
,
P. Gressens
,
+9 authors
G. Mannaerts
Nature Genetics
1997
Corpus ID: 23549100
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix…
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Highly Cited
1981
Highly Cited
1981
Stages of Faith
J. Fowler
1981
Corpus ID: 55229982
Sl:::tce4 mast ~pproPrQtdy t3=s form iD young ~dulthood (but let w =r:mba lh2t =r ilduladonot amstroct it ~nriflut fan signiDcmt…
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Highly Cited
1973
Highly Cited
1973
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
S. Goldfischer
,
C. Moore
,
+7 authors
L. Gartner
Science
1973
Corpus ID: 40726078
The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia…
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