D-bifunctional Protein Deficiency Caused by Splicing Variants in a Neonate with Severe Peroxisomal Dysfunction and Persistent Hypoglycemia

Kelly M. Werner,Allison J. Cox,Emily Qian,Preti Jain,Weizhen Ji,Irina Tikhonova,Christopher Castaldi,Kaya Bilguvar,James Knight,Sacha Ferdinandusse,Rima Fawaz,Yong-Hui Jiang,Patrick G. Gallagher,Matthew Bizzarro,Jeffrey R. Gruen,Allen Bale,Hui Zhang

American Journal of Medical Genetics Part A（2021）

引用 3|浏览44

关键词

D-bifunctional protein deficiency,peroxisomal biogenesis disorders,rapid whole genome sequencing,very-long-chain fatty acids,Zellweger spectrum disorders

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要