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   Articles with "crigler najjar" as a keyword



Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry

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recommendations! Published in 2022 at "Liver International"

DOI: 10.1111/liv.15239

Abstract: BACKGROUND & AIMS Crigler-Najjar-Syndrome (CNS) is a disorder of bilirubin conjugation leading to brain damage and death without treatment. Although cohort studies of limited size have been published, uncertainty about outcome, co-morbidities, liver fibrosis and… read more here.

Keywords: cns patients; cns; crigler najjar; treatment ... See more keywords

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

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recommendations! Published in 2020 at "BMC Gastroenterology"

DOI: 10.1186/s12876-020-01192-4

Abstract: Background Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from… read more here.

Keywords: crigler najjar; duplication; case; exon ugt1a1 ... See more keywords

Crigler-Najjar syndrome: looking to the future does not make us forget the present

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recommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-024-03108-x

Abstract: Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-term efficacy and safety.… read more here.

Keywords: crigler najjar; najjar syndrome; future make; looking future ... See more keywords

A Rare Case of Crigler-Najjar Syndrome Type 2.

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recommendations! Published in 2025 at "Journal of Nepal Health Research Council"

DOI: 10.33314/jnhrc.v23i01.5352

Abstract: Crigler-Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male… read more here.

Keywords: najjar syndrome; case; crigler najjar; syndrome type ... See more keywords