Cargando…
Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. CASE REPORT: We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent mul...
Autores principales: | Dixit, Mehul P, Greifer, Ira |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2002
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC137602/ https://www.ncbi.nlm.nih.gov/pubmed/12425721 http://dx.doi.org/10.1186/1471-2369-3-8 |
Ejemplares similares
-
Hirschsprung's disease with infantile nephropathic cystinosis
por: Mittal, Deepak, et al.
Publicado: (2015) -
Improving the prognosis of nephropathic cystinosis
por: Besouw, Martine TP, et al.
Publicado: (2014) -
Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
por: Ecel, Mahmut, et al.
Publicado: (2017) -
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
por: Elmonem, Mohamed A, et al.
Publicado: (2014) -
Analysis of CTNS gene transcripts in nephropathic cystinosis
por: Taranta, Anna, et al.
Publicado: (2010)