Therapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.

Crigler-Najjar Syndrome / therapy Humans Genetic Therapy / methods Liver Transplantation Glucuronosyltransferase / genetics
Crigler–Najjar syndrome UGT1A1 mutation gene therapy hyperbilirubinemia liver transplantation

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
13 Oct 2024
Historique:
received: 13 09 2024
revised: 01 10 2024
accepted: 11 10 2024
medline: 26 10 2024
pubmed: 26 10 2024
entrez: 26 10 2024
Statut: epublish

Résumé

Crigler-Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the

Identifiants

DOI: 10.3390/ijms252011006 PMID: 39456788
pubmed: 39456788
pii: ijms252011006
doi: 10.3390/ijms252011006
pii:
doi:

Substances chimiques

Glucuronosyltransferase EC 2.4.1.17
UGT1A1 enzyme EC 2.4.1.-

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Vanessa Sambati (V)

Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
ORCID: 0000-0002-1579-3934

Serena Laudisio (S)

Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.

Matteo Motta (M)

Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.

Susanna Esposito (S)

Pediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
ORCID: 0000-0003-4103-2837

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Hyperbilirubinémie héréditaire › Syndrome de Crigler-Najjar › Therapeutic Options for Crigler-Najjar...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Therapeutic Options for Crigler-Najjar...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique › Therapeutic Options for Crigler-Najjar...
questionsmedicales.fr › Procédures de chirurgie opératoire › Transplantation › Transplantation de tissu › Transplantation hépatique › Therapeutic Options for Crigler-Najjar...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Glycosyltransferase › Hexosyltransferases › Glucuronosyltransferase › Therapeutic Options for Crigler-Najjar...