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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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
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
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
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
We develop a method for decomposing countries' observed export prices into quality versus quality-adjusted-price components using… Expand
Review
2002
Review
2002
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
OBJECTIVE A recent study conducted by the Pediatric Research in Office Settings network provided evidence that girls in the… Expand
Review
2000
Review
2000
BACKGROUND AND PURPOSE Treatment of patients with impingement symptoms commonly includes exercises intended to restore "normal… Expand
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… Expand
Highly Cited
1981
Highly Cited
1981
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
The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia… Expand