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[Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].

Medizinische Klinik (Munich, Germany : 1983) - 15 Sept 2002

Kraemer Doris, Scheurlen Michael

Abstract excerpt

BACKGROUND: Gilbert syndrome and the Crigler-Najjar syndromes Type I and II are disorders of bilirubin conjugation with consecutive indirect hyperbilirubinemia of different severity. Morbus Gilbert is a mild hyperbilirubinemia, which is only of significance in case of drug therapy or differential...

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Identifiers

PMID: 12371080
DOI: 10.1007/s00063-002-1180-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12371080-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].PMID 12371080Read ↗

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Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.Semantic proximity Read ↗

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Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.Semantic proximity Read ↗

Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.Semantic proximity Read ↗

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.Semantic proximity Read ↗

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[UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].Semantic proximity Read ↗

[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].Semantic proximity Read ↗

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Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.Semantic proximity Read ↗

[Analysis of diagnostic value of UGT1A1 gene detection in Gilbert syndrome].Semantic proximity Read ↗

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