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Julia Vara

12

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474

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Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene

2013 Journal of pediatric genetics
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Improvement in Growth After 1 Year of Growth Hormone Therapy in Well-Nourished Infants with Growth Retardation Secondary to Chronic Renal Failure: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

2010 Clinical Journal of The American Society of Nephrology
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Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

2009 Mitochondrion
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New mutations in the BCS1L gene in a patient with a lethal syndrome with cholestasis, liver failure, tubulopathy and microcephaly.

2007
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Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.

2007 Clinical Nephrology
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Renal pathology in children with mitochondrial diseases

2005 Pediatric Nephrology
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Absence of hypoalbuminemia despite massive proteinuria in focal segmental glomerulosclerosis secondary to hyperfiltration

1999 American Journal of Kidney Diseases
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Association of thin basement membrane nephropathy with hypercalciuria, hyperuricosuria and nephrolithiasis

1998 Kidney International
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1996 Pediatric Nephrology
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1995 Kidney International
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Citations (160)