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See Latest ArticlesPrimary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance
Urological Research - Urolithiasis, 11/10/08
Mandrile G et al. - Authors report the clinical and genetic study of a primary hyperoxaluria type I (PH1) family with two sisters homozygous for p.Gly170Arg who are still asymptomatic at age 29 and 35, and two brothers, also homozygous for the same mutation, who are affected since age 27 and 30. The stable isotope method recently developed by Huidekoper and van Woerden for in vivo assessment of the endogenous oxalate production could help to clarify the issue in humans.
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Today in Acid-Base...keeping you current
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Activation of p53 Promotes Renal Injury in Acute Aristolochic Acid Nephropathy
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Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
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Today in Basic Science/Genetics...keeping you current
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Conditionally immortalized human podocyte cell lines established from urine
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