First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs, causing multisystemic manifestations including the brain, retina, adrenal gland, hearin...

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Detalles Bibliográficos
Autores principales: Bae, Eun Young, Yi, Yoonyoung, Lim, Han Hyuk, Lee, Jiwon M., Lee, Bongjin, Kim, Seung Yeon, Kim, Yoo-Mi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550233/
https://www.ncbi.nlm.nih.gov/pubmed/33045774
http://dx.doi.org/10.3346/jkms.2020.35.e357

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550233/
https://www.ncbi.nlm.nih.gov/pubmed/33045774
http://dx.doi.org/10.3346/jkms.2020.35.e357

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