A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Author:

Bo RyosukeORCID,Hasegawa Yuki,Yamada Kenji,Kobayashi Hironori,Taketani Takeshi,Fukuda Seiji,Yamaguchi Seiji

Funder

Shizuoka Children's Hospital

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference16 articles.

1. Novel fatty acid β-oxidation enzymes in rat liver mitochondria: II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein;Uchida;J. Biol. Chem.,1992

2. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits;Ushikubo;Am. J. Hum. Genet.,1996

3. The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement;Spiekerkoetter;J. Inherit. Metab. Dis.,2004

4. Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations;Ibdah;J. Pediatr.,2001

5. Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency;Purevsuren;Mol. Genet. Metab.,2008

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