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Crigler Najjar syndrome, type 1
Known as:
CRIGLER-NAJJAR DISEASE
, Crigler-Najjar Syndrome, Type I
, Familial Nonhemolytic Unconjugated Hyperbilirubinemia
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A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused…
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National Institutes of Health
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Related topics
Related topics
12 relations
Autosomal recessive inheritance
Congenital hyperbilirubinemia
Gilbert Disease (disorder)
In Blood
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Narrower (1)
Crigler Najjar syndrome, type 2
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1999
Highly Cited
1999
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I.
M. Rela
,
P. Muiesan
,
+4 authors
N. Heaton
Annals of Surgery
1999
Corpus ID: 24750255
OBJECTIVE To determine if auxiliary partial orthotopic liver transplantation (APOLT) has the long-term potential to correct the…
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Highly Cited
1998
Highly Cited
1998
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation.
I. Fox
,
J. Chowdhury
,
+6 authors
S. Strom
New England Journal of Medicine
1998
Corpus ID: 7447770
Crigler–Najjar syndrome type I is a recessively inherited disorder characterized by severe unconjugated hyperbilirubinemia…
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Highly Cited
1998
Highly Cited
1998
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.
Kazuo Yamamoto
,
Hiroshi Sato
,
Y. Fujiyama
,
Y. Doida
,
T. Bamba
Biochimica et Biophysica Acta
1998
Corpus ID: 38145979
Highly Cited
1997
Highly Cited
1997
Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.
D. Clarke
,
N. Moghrabi
,
+4 authors
B. Burchell
Clinica chimica acta; international journal of…
1997
Corpus ID: 39289960
Highly Cited
1995
Highly Cited
1995
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
S. Aono
,
H. Keino
,
+5 authors
Hiroshi Sato
The Lancet
1995
Corpus ID: 27888567
Highly Cited
1993
Highly Cited
1993
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
S. Aono
,
Y. Yamada
,
+6 authors
Osamu Koiwai
Biochemical and Biophysical Research…
1993
Corpus ID: 32603864
Crigler-Najjar syndrome (CN) type II is characterized by severe chronic nonhemolytic unconjugated hyperbilirubinemia due to…
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Highly Cited
1993
Highly Cited
1993
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
N. Moghrabi
,
D. Clarke
,
M. Boxer
,
B. Burchell
Genomics
1993
Corpus ID: 20957776
Crigler-Najjar syndrome is an inborn error of metabolism that is characterized by severe unconjugated hyperbilirubinemia. The…
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Highly Cited
1993
Highly Cited
1993
Human bilirubin UDP-glucuronosyltransferase catalyzes the glucuronidation of ethinylestradiol.
T. Ebner
,
R. Remmel
,
B. Burchell
Molecular Pharmacology
1993
Corpus ID: 7279938
The synthetic estrogen ethinylestradiol is extensively eliminated as glucuronide metabolites in humans, but the UDP…
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Highly Cited
1992
Highly Cited
1992
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
Joseph K. Ritter
,
M. Yeatman
,
Patrick
,
Ferreira
,
Ida S. Owens
Journal of Clinical Investigation
1992
Corpus ID: 27571722
Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is…
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Highly Cited
1992
Highly Cited
1992
Quantitation of transplanted hepatic mass necessary to cure the Gunn rat model of hyperbilirubinemia.
K. Asonuma
,
J. Gilbert
,
J. Stein
,
T. Takeda
,
J. Vacanti
Journal of Pediatric Surgery
1992
Corpus ID: 8569901
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