Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia. On the other hand, Crigler-Najjar syndrome (CNS-II) is ch...

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Detalles Bibliográficos
Autores principales: Wu, Huan, Wu, Long, Zhang, Quan, Zhang, Bao-fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475990/
https://www.ncbi.nlm.nih.gov/pubmed/37671043
http://dx.doi.org/10.3389/fgene.2023.1229271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10475990/
https://www.ncbi.nlm.nih.gov/pubmed/37671043
http://dx.doi.org/10.3389/fgene.2023.1229271

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