P0700 / #583: SIGNIFICANT RECOVERY OF CARDIAC FUNCTION IN SEVERE DILATED CARDIOMYOPATHY SECONDARY TO MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY IN AN INFANT: CASE REPORT AND REVIEW
نویسندگان
چکیده
منابع مشابه
[Mitochondrial trifunctional protein deficiency].
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...
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ژورنال
عنوان ژورنال: Pediatric Critical Care Medicine
سال: 2021
ISSN: 1529-7535
DOI: 10.1097/01.pcc.0000741136.29817.97