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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
- R. Belostotsky, E. Seboun, +10 authors Y. Frishberg
- Biology, Medicine
- American journal of human genetics
- 10 September 2010
Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of… Expand
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by… 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
Transplantation Outcomes in Primary Hyperoxaluria
- E. Bergstralh, C. Monico, +4 authors D. S. Milliner
- American journal of transplantation : official…
- 1 November 2010
Optimal transplantation strategies are uncertain in primary hyperoxaluria (PH) due to potential for recurrent oxalosis. Outcomes of different transplantation approaches were compared using life‐table… Expand
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele.
BACKGROUND Pyridoxine (VB6) response in type I primary hyperoxaluria (PHI) is variable, with nearly equal numbers of patients showing partial to complete reductions in oxaluria, and resistance.… Expand
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
- C. Monico, S. Rossetti, +5 authors D. Milliner
- Biology, Medicine
- Journal of the American Society of Nephrology…
- 1 June 2007
Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of liver-specific alanine:glyoxylate aminotransferase (AGT), the metabolic error in type 1 primary hyperoxaluria (PH1). Genetic analysis… Expand
International Registry for Primary Hyperoxaluria
Background/Aims: Primary hyperoxaluria (PH) is an inherited disorder that causes calcium urolithiasis and renal failure. Due to its rarity, experience at most centers with this disease is limited.… Expand
Cardiac abnormalities in primary hyperoxaluria.
- F. Mookadam, T. Smith, +4 authors D. Milliner
- Circulation journal : official journal of the…
- 29 September 2010
BACKGROUND In patients with primary hyperoxaluria (PH), oxalate overproduction can result in recurrent urolithiasis and nephrocalcinosis, which in some cases results in a progressive decline in renal… Expand
Genetic determinants of urolithiasis
Urolithiasis affects approximately 10% of individuals in Western societies by the seventh decade of life. The most common form, idiopathic calcium oxalate urolithiasis, results from the interaction… Expand
Hyperoxaluria and urolithiasis in young children: an atypical presentation.
Urolithiasis is uncommon in adolescence and rare in early childhood. In pediatric populations, congenital urinary tract anomalies associated with stasis and infection, idiopathic urolithiasis… Expand