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Details on Person A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

Class:IdLiteratureReference:9916868
_displayNameA phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing
_timestamp2024-07-26 17:46:03
author[Person:9916867] D'Gama, Alissa M
[Person:9916860] Brucker, William J
[Person:8932059] Zhang, Tian
[Person:9916863] Gubbels, Cynthia S
[Person:193458] Ferdinandusse, Sacha
[Person:9916864] Shi, Jiahai
[Person:9916866] Grant, Patricia Ellen
[Person:9916862] VanNoy, Grace
[Person:9823225] Genetti, Casie A
[Person:9916869] Juusola, Jane
[Person:8931637] Yu, Timothy W
[Person:9916861] Kritzer, Amy
[Person:9823102] Agrawal, Pankaj B
created[InstanceEdit:9916865] Rothfels, Karen, 2024-07-26
journalAm J Med Genet A
pages780-784
pubMedIdentifier32022391
titleA phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing
volume182
year2020
(literatureReference)[EntityWithAccessionedSequence:9916912] C163SF HIBCH [mitochondrial matrix] [Homo sapiens]
[Pathway:9916722] 3-hydroxyisobutyryl-CoA hydrolase deficiency [Homo sapiens]
[FailedReaction:9916727] HIBCH mutants don't synthesize beta-hydroxyisobutyrate [Homo sapiens]
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