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■ Search Result - Abbreviation : HIBCHD

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Abbreviation: HIBCHD
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Long forms: 2

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
3-Hydroxyisobutyryl-CoA hydrolase deficiency
(1 time)
(1 time)
--- 2015 Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
3-Hydroxyisobutyryl-coenzyme A (CoA) hydrolase deficiency
(1 time)
CoA (1 time)
MRI (1 time)
WES (1 time)
2019 Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.