Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency

BACKGROUND—Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) is one of the enzymes involved in the breakdown of fatty acids. A deficiency of this enzyme is associated with life threatening episodes of hypoketotic hypoglycaemia during prolonged fasting. Neuropathy and retinopigmentary changes were...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Schrijver-Wieling, I., van Rens, G. H M B, Wittebol-Post, D., Smeitink, J., de Jager, J. P, de Klerk, H. B C, van Lith, G. H M
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 1997
Aiheet:
Original articles - Clinical science
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722172/
https://ncbi.nlm.nih.gov/pubmed/9215057
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia