Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review

Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D-bifunctional protein defects can be divided into fou...

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Detalles Bibliográficos
Autores principales: Chen, Si, Du, Linrun, Lei, Yihui, Lin, Yuanyuan, Chen, Shangqin, Liu, Yanli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342883/
https://www.ncbi.nlm.nih.gov/pubmed/34368026
http://dx.doi.org/10.3389/fped.2021.679597

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342883/
https://www.ncbi.nlm.nih.gov/pubmed/34368026
http://dx.doi.org/10.3389/fped.2021.679597

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