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Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of ca...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Besouw, M., Cornelissen, E., Cassiman, D., Kluijtmans, L., van den Heuvel, L., Levtchenko, E.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221611/
https://ncbi.nlm.nih.gov/pubmed/24798266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_312
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