Title: | Secondary metabolic defects in spinal muscular atrophy type II |
Journal : | Lancet (Ed. ang.), 336, 8715 |
Authors: | Harpey JP, Author ; Charpentier C ; Paturneau-Jouas M ; Renault F ; Romero NB ; Fardeau M |
Material Type: | Article |
Publication Date: | 1990 |
Size: | p 629 |
Languages: | English |
Keywords : | acyl-CoA dehydrogenase ; acyl-CoA dehydrogenase deficiency ; biological assays ; carnitine ; carnitine deficiency ; clinical presentation ; coenzyme Q10 ; diet ; disease complications ; fatty acid beta-oxidation deficiency ; letters ; medical treatment ; muscle denervation ; proximal spinal muscular atrophy type 2 ; urine rates |
Pubmed / DOI : | Pubmed : 1975398 / DOI : 10.1016/0140-6736(90)93426-P |