Si Chen Linrun Du Yihui Lei Yuanyuan Lin Shangqin Chen Yanli Liu
10.3389/fped.2021.679597
Front Pediatr
2021 Jul 23;9:679597.
d-bifunctional protein deficiency hsd17b4 hypotonia neonatal seizures peroxisomal disease
CC BY
https://pubmed.ncbi.nlm.nih.gov/34368026/
Case Reports
PMC8342883
34368026
Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review
2021