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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… Expand
National Institutes of Health

Related topics

Related topics

48 relations
Acquired cubitus valgusAminoaciduriaAutosomal recessive inheritanceBreech Presentation
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Broader (7)

Congenital anomaly of brainCongenital disease of brainHereditary DiseasesLiver 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
Recently, the skill involved in playing and mastering video games has led to the professionalization of the activity in the form… Expand
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Review
2018
Review
2018
Bidirectional Microglia–Neuron Communication in Health and Disease
Microglia are ramified cells that exhibit highly motile processes, which continuously survey the brain parenchyma and react to… Expand
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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
Purpose Reporting guidelines (eg, Consolidated Standards of Reporting Trials [CONSORT] statement) are intended to improve… Expand
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Highly Cited
2008
Highly Cited
2008
Estimating Cross-Country Differences in Product Quality
We develop a method for decomposing countries' observed export prices into quality versus quality-adjusted-price components using… Expand
Review
2002
Review
2002
Genetics and pathogenesis of polycystic kidney disease.
Eberhard Ritz Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in children and adults, is… Expand
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… Expand
Review
2000
Review
2000
Alterations in shoulder kinematics and associated muscle activity in people with symptoms of shoulder impingement.
BACKGROUND AND PURPOSE Treatment of patients with impingement symptoms commonly includes exercises intended to restore "normal… Expand
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… Expand
Highly Cited
1981
Highly Cited
1981
Stages of Faith
Sl:::tce4 mast ~pproPrQtdy t3=s form iD young ~dulthood (but let w =r:mba lh2t =r ilduladonot amstroct it ~nriflut fan signiDcmt… Expand
Highly Cited
1973
Highly Cited
1973
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia… Expand
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