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

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. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brai...

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Detalles Bibliográficos
Autores principales: Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8512218/
https://www.ncbi.nlm.nih.gov/pubmed/34660840
http://dx.doi.org/10.1177/2329048X211048613

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8512218/
https://www.ncbi.nlm.nih.gov/pubmed/34660840
http://dx.doi.org/10.1177/2329048X211048613

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