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）

Cited 3|Views44

Key words

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

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