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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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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2014
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| Assuntos: | |
| 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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