Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Author:

Fletcher Autumn L.,Pennesi Mark E.,Harding Cary O.,Weleber Richard G.,Gillingham Melanie B.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference49 articles.

1. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium;Tyni;Pediatr. Res.,2002

2. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency;Gillingham;Mol. Genet. Metab.,2005

3. Biochemistry of the Eye;Berman,1991

4. 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

5. Fatty acid oxidation disorders;Rinaldo;Annu. Rev. Physiol.,2002

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