Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

Akiyo Yamamoto,Shinobu Fukumura,Yumi Habata,Sachiko Miyamoto,Mitsuko Nakashima,Shigeo Takashima,Yukihiko Kawasaki,Nobuyuki Shimozawa,Hirotomo Saitsu

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.

2021

Akiyo Yamamoto
Shinobu Fukumura
Yumi Habata
Sachiko Miyamoto
Mitsuko Nakashima
Shigeo Takashima
Yukihiko Kawasaki
Nobuyuki Shimozawa
Hirotomo Saitsu

D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. ...

Keywords:

Peroxisomal disorder
Progressive leukodystrophy
Endocrinology
Genetic heterogeneity
DBP DEFICIENCY
Medicine
Sensorineural hearing loss
Leukodystrophy
D-bifunctional protein deficiency
Internal medicine

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