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Author/Creator Kritzer, Amy

2. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Issue 4 (5th February 2020)

Authors:
D'Gama, Alissa M.; Brucker, William J.; Zhang, Tian; Gubbels, Cynthia S.; Ferdinandusse, Sacha; Shi, Jiahai; Grant, Patricia Ellen; VanNoy, Grace; Genetti, Casie A.; Juusola, Jane; Yu, Timothy W.; Kritzer, Amy; Agrawal, Pankaj B.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
780
Record Type:
Journal Article
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