Evidence of true genotype–phenotype correlation in primary hyperoxaluria type 1

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Bilateral nephrocalcinosis in primary hyperoxaluria type 1

A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...

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Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

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ژورنال

عنوان ژورنال: Kidney International

سال: 2010

ISSN: 0085-2538

DOI: 10.1038/ki.2009.471