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Crigler Najjar syndrome, type 1

Known as: CRIGLER-NAJJAR DISEASE, Crigler-Najjar Syndrome, Type I, Familial Nonhemolytic Unconjugated Hyperbilirubinemia 
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
UGT1A1 enzyme defects are responsible of both Gilbert syndrome (GS) and Crigler-Najjar syndrome (CNS). GS depends on a variant… Expand
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Review
2010
Review
2010
Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies… Expand
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Review
2008
Review
2008
Liver cell transplantation is an attractive technique to treat liver-based inborn errors of metabolism. The feasibility and… Expand
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Highly Cited
2005
Highly Cited
2005
Crigler-Najjar syndrome type 1 (CN1) is an inherited disorder characterized by the absence of hepatic uridine… Expand
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Review
2000
Review
2000
Uridine-diphosphoglucuronate glucuronosyltransferases (UGTs) are a family of enzymes that conjugate various endogenous and… Expand
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1999
1999
OBJECTIVE To determine if auxiliary partial orthotopic liver transplantation (APOLT) has the long-term potential to correct the… Expand
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Highly Cited
1998
Highly Cited
1998
Crigler–Najjar syndrome type I is a recessively inherited disorder characterized by severe unconjugated hyperbilirubinemia… Expand
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Highly Cited
1998
Highly Cited
1998
In our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler-Najjar… Expand
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Highly Cited
1993
Highly Cited
1993
Crigler-Najjar syndrome (CN) type II is characterized by severe chronic nonhemolytic unconjugated hyperbilirubinemia due to… Expand
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1993
1993
Some diseases that result from inborn errors of critical metabolic or synthetic processes mainly involving the liver do not cause… Expand
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