• Publications
  • Influence
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies ofExpand
  • 153
  • 14
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 byExpand
  • 125
  • 8
  • PDF
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
  • 83
  • 8
  • PDF
Transplantation Outcomes in Primary Hyperoxaluria
Optimal transplantation strategies are uncertain in primary hyperoxaluria (PH) due to potential for recurrent oxalosis. Outcomes of different transplantation approaches were compared using life‐tableExpand
  • 119
  • 7
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
  • 140
  • 4
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
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 analysisExpand
  • 57
  • 3
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
  • 96
  • 2
Cardiac abnormalities in primary hyperoxaluria.
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 renalExpand
  • 36
  • 2
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 interactionExpand
  • 51
  • 2
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 urolithiasisExpand
  • 16
  • 1