Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period-Reference-Cited by-同舟云学术

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period

Published:2021-01-04 Issue:3 Volume:142 Page:371-380
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Rigaudière Florence^ORCID,Delouvrier Eliane,Le Gargasson Jean-François,Milani Paolo,Ogier de Baulny Hélène,Schiff Manuel

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10633-020-09802-y.pdf

Reference33 articles.

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3. IJlst L et al (1996) Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 98(4):1028–1033

4. Roomets E, Kivela T, Tyni T (2008) Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects. Invest Ophthalmol Vis Sci 49(4):1660–1664

5. den Boer ME et al (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109(1):99–104

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