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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity andExpand
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Urolithiasis in pediatric patients.
Urolithiasis in pediatric patients has been perceived as uncommon, and the appropriate evaluation and management have been controversial. To determine the clinical characteristics, types of stoneExpand
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The primary hyperoxalurias.
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severeExpand
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Hyperoxaluric nephrolithiasis is a complication of Roux-en-Y gastric bypass surgery.
Roux-en-Y bypass surgery is the most common bariatric procedure currently performed in the United States for medically complicated obesity. Although this leads to a marked and sustained weight loss,Expand
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Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
BACKGROUND AND OBJECTIVES Primary hyperoxaluria types I and II (PHI and PHII) are rare monogenic causes of hyperoxaluria and calcium oxalate urolithiasis. Recently, we described type III, due toExpand
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Temporal trends in incidence of kidney stones among children: a 25-year population based study.
PURPOSE We conducted a population based pediatric study to determine the incidence of symptomatic kidney stones during a 25-year period and to identify factors related to variation in stone incidenceExpand
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Phenotypic expression of primary hyperoxaluria: comparative features of types I and II.
BACKGROUND The primary hyperoxalurias are autosomal recessive disorders resulting from deficiency of hepatic alanine:glyoxylate aminotransferase (PHI) or D-glycerate dehydrogenase/glyoxylateExpand
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The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction ofExpand
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Kidney stones are common after bariatric surgery
Obesity, a risk factor for kidney stones and chronic kidney disease (CKD), is effectively treated with bariatric surgery. However, it is unclear if surgery alters stone or CKD risk. To determine thisExpand
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Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), andExpand
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