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The Importance of the Early Diagnosis of Infantile Nephropathic Cystinosis: A Case Report. 2021

Emine Polat, and Emine Gulsah Torun, and Bilge Akkaya
Pediatrics, Dr Sami Ulus Gynecology Obstetrics and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D003554 Cystinosis A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. Cystine Diathesis,Cystine Disease,Cystine Storage Disease,Cystinoses,Cystinosin, Defect of,Cystinosis, Nephropathic,Lysosomal Cystine Transport Protein, Defect Of,Nephropathic Cystinosis,Cystine Diatheses,Cystine Diseases,Cystine Storage Diseases,Cystinoses, Nephropathic,Defect of Cystinosin,Diatheses, Cystine,Diathesis, Cystine,Nephropathic Cystinoses,Storage Disease, Cystine,Storage Diseases, Cystine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D042241 Early Diagnosis Methods to determine in patients the nature of a disease or disorder at its early stage of progression. Generally, early diagnosis improves PROGNOSIS and TREATMENT OUTCOME. Early Detection of Disease,Diagnosis, Early,Disease Early Detection

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