Author pages are created from data sourced from our academic publisher partnerships and public sources.
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 and… Expand
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 stone… Expand
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 severe… Expand
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
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
- C. Monico, S. Rossetti, +9 authors D. Milliner
- Clinical journal of the American Society of…
- 1 September 2011
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 to… Expand
Temporal trends in incidence of kidney stones among children: a 25-year population based study.
- M. Dwyer, A. Krambeck, E. Bergstralh, D. Milliner, J. Lieske, A. Rule
- The Journal of urology
- 1 July 2012
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 incidence… Expand
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/glyoxylate… Expand
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
- S. Cramer, P. Ferree, K. Lin, D. Milliner, R. Holmes
- Biology, Medicine
- Human molecular genetics
- 1 October 1999
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 of… Expand
Kidney stones are common after bariatric surgery
- J. Lieske, Ramila A. Mehta, D. Milliner, A. Rule, E. Bergstralh, M. Sarr
- Kidney international
- 26 September 2014
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 this… Expand
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
- K. Hopp, A. Cogal, +6 authors P. Harris
- Biology, Medicine
- Journal of the American Society of Nephrology…
- 2 February 2015
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), and… Expand