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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...
Gorde:
| Argitaratua izan da: | JIMD Rep |
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| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2014
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| Gaiak: | |
| Sarrera elektronikoa: | 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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