Akiyo Yamamoto Shinobu Fukumura Yumi Habata Sachiko Miyamoto Mitsuko Nakashima Shigeo Takashima Yukihiko Kawasaki Nobuyuki Shimozawa Hirotomo Saitsu
10.1177/2329048X211048613
Child Neurol Open
2021 Oct 11;8:2329048X211048613.
d-bifunctional protein deficiency hsd17b4 leukodystrophy peroxisomal disease sensorineural hearing loss very long chain fatty acids
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/34660840/
Case Reports
PMC8512218
34660840
Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review
2021