Llwytho...

Autosomal recessive lipid storage myopathy (probable carnitine deficiency).

Two sisters died at the age of 17 and 19, respectively, of a myopathy with exacerbations and remissions characterised by pain and weakness of muscles which ended fatally with lactic acidosis and respiratory failure. The clinical picture was very similar to that described in some cases of carnitine d...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Almog, C, Fried, K, Reif, R, Zieghelboim, J, Lewinsohn, G
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1979
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012589/
https://ncbi.nlm.nih.gov/pubmed/537015
Tagiau: Ychwanegu Tag
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