Hereditary causes of kidney stones and chronic kidney disease

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype-Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations

(2012) A. Godron et al.   Clinical Journal of the American Society of Nephrology

Adenine phosphoribosyltransferase deficiency in children

(2012) Jérôme Harambat et al.   PEDIATRIC NEPHROLOGY

Chronic Kidney Disease in Kidney Stone Formers

(2011) A. D. Rule et al.   Clinical Journal of the American Society of Nephrology

Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

(2011) C. G. Monico et al.   Clinical Journal of the American Society of Nephrology

An Update on the Changing Epidemiology and Metabolic Risk Factors in Pediatric Kidney Stone Disease

(2011) D. J. Sas   Clinical Journal of the American Society of Nephrology

Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria

(2011) B. Hoppe et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Claudins in renal physiology and disease

(2011) Jiahua Li et al.   PEDIATRIC NEPHROLOGY

Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria

(2011) Travis J. Riedel et al.   PLoS One

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

(2010) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Role of Tight Junctions in Paracellular Ion Transport in the Renal Tubule: Lessons Learned From a Rare Inherited Tubular Disorder

(2010) Lea Haisch et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Transplantation Outcomes in Primary Hyperoxaluria

(2010) E. J. Bergstralh et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

(2010) S. Faguer et al.   Clinical Journal of the American Society of Nephrology

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

(2010) Haifa Hichri et al.   HUMAN MUTATION

Analysis of 24-Hour Urine Parameters As It Relates to Age of Onset of Cystine Stone Formation

(2010) Erica H. Lambert et al.   JOURNAL OF ENDOUROLOGY

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

(2010) G. Bollee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Pathophysiology and treatment of cystinuria

(2010) Josep Chillarón et al.   Nature Reviews Nephrology

Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure

(2010) S. H. Nasr et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Dent's disease

(2010) Olivier Devuyst et al.   Orphanet Journal of Rare Diseases

Dent’s disease: clinical features and molecular basis

(2010) Félix Claverie-Martín et al.   PEDIATRIC NEPHROLOGY

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

(2010) G. Novarino et al.   SCIENCE

Dent-2 Disease: A Mild Variant of Lowe Syndrome

(2009) Arend Bökenkamp et al.   JOURNAL OF PEDIATRICS

The primary hyperoxalurias

(2009) Bernd Hoppe et al.   KIDNEY INTERNATIONAL

Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

(2009) Jérôme Harambat et al.   KIDNEY INTERNATIONAL

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

(2009) Enrica Tosetto et al.   PEDIATRIC NEPHROLOGY

Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

(2009) Yaacov Frishberg et al.   PEDIATRIC NEPHROLOGY

Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium

(2009) J. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multi-System Disorder Syndromes Associated with Cystinuria Type I

(2008) Kevin Martens et al.   CURRENT MOLECULAR MEDICINE

Genetic causes of hypercalciuric nephrolithiasis

(2008) Michael J. Stechman et al.   PEDIATRIC NEPHROLOGY

Diagnostic examination of the child with urolithiasis or nephrocalcinosis

(2008) Bernd Hoppe et al.   PEDIATRIC NEPHROLOGY

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene

(2008) Geeta Hampson et al.   BMC Nephrology

CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

(2007) M. Konrad et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY