Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review
Author:
Publisher
Briefland
Subject
Infectious Diseases,Hepatology
Reference16 articles.
1. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach
2. Wilson’s Disease
3. p.H1069Q mutation inATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
4. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
5. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
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1. Osteochondral lesions in Wilson’s disease: case report and literature review;AME Case Reports;2024-07
2. Review of childhood genetic nephrolithiasis and nephrocalcinosis;Frontiers in Genetics;2024-03-28
3. Kidney involvement in Wilson's disease: a review of the literature;Clinical Kidney Journal;2024-03-09
4. Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl;CEN Case Reports;2023-07-06
5. Wilson disease: a summary of the updated AASLD Practice Guidance;Hepatology Communications;2023-05-15
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