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Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

Journal of the American Society of Nephrology, 2010, Vol.21 (1), p.64-72

2010

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Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency

Pediatric nephrology (Berlin, West), 2016-12, Vol.31 (12), p.2289-2297

2016

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Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

Frontiers in pediatrics, 2021-11, Vol.9, p.752312-752312

2021

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Hyponatremia in refractory congestive heart failure patients treated with icodextrin-based peritoneal dialysis: A case series

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2018-01, Vol.38 (1), p.87-91

2018

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Hyponatremia in refractory congestive heart failure patients treated with icodextrin-based peritoneal dialysis: A case series

Nefrología, 2018-01, Vol.38 (1), p.87-91

2018

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Loss-of-Function Mutations of CYP24A1 , the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis

The Journal of urology, 2013-08, Vol.190 (2), p.552-557

2013

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Evaluation of an infant with hypercalcemia

Pediatric nephrology (Berlin, West), 2015-03, Vol.30 (3), p.537-537

2015

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Childhood Hypercalciuric Hypercalcemia with Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow-Up: PO0572

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.216-216

2021

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Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli–Arab family

Pediatric nephrology (Berlin, West), 2009-05, Vol.24 (5), p.999-1003

2009

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Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake

Pediatric nephrology (Berlin, West), 2015, Vol.30 (1), p.145-152

2015

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Homozygous SLC2A9 mutations cause severe renal hypouricemia

Journal of the American Society of Nephrology, 2010-01, Vol.21 (1), p.64-72

2010

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Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Nephrology, dialysis, transplantation, 2014-03, Vol.29 (3), p.636-643

2014

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URAT1 mutations cause renal hypouricaemia type 1 in Iraqi Jews

Nephrology, dialysis, transplantation, 2011-07, Vol.26 (7), p.2175-2181

2011

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Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter

Nephron (2015), 2017-01, Vol.137 (1), p.77-84

2017

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URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews

Nephrology, dialysis, transplantation, 2011-07, Vol.26 (7), p.2175-2181

2011

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Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

Nephrology, dialysis, transplantation, 2012-03, Vol.27 (3), p.1035-1041

2012

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Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not

Journal of nephrology, 2014-06, Vol.27 (3), p.257-264

2014

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Molecular Study of Proteinuria in Patients Treated with B12 Supplements: Do Not Forget Megaloblastic Anemia Type 1

Nephron, 2011-05, Vol.118 (2), p.c67-c71

2011

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Prevention of Acute GvHD Following Negative Functional Selection of Allogeneic T-Cells Using Fas Ligand Exposure of the Graft: Preliminary Results for Launching a Clinical Study

Blood, 2015-12, Vol.126 (23), p.3084-3084

2015

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Efficacy and safety of autologous hematopoietic cell transplantation in elderly patients with multiple myeloma: a retrospective national multi-site cohort study

Annals of hematology, 2017-02, Vol.96 (2), p.271-278

2017

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Efficacy and Safety of Autologus Hematopoietic Cell Transplantation in Elderly Patients with Multiple Myeloma: A Retrospective Israeli Multi-Site Cohort Study

Blood, 2014-12, Vol.124 (21), p.3989-3989

2014

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Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency

Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up

Hyponatremia in refractory congestive heart failure patients treated with icodextrin-based peritoneal dialysis: A case series

Hyponatremia in refractory congestive heart failure patients treated with icodextrin-based peritoneal dialysis: A case series

Loss-of-Function Mutations of CYP24A1 , the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis

Evaluation of an infant with hypercalcemia

Childhood Hypercalciuric Hypercalcemia with Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow-Up: PO0572

Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli–Arab family

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake

Homozygous SLC2A9 mutations cause severe renal hypouricemia

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

URAT1 mutations cause renal hypouricaemia type 1 in Iraqi Jews

Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not

Molecular Study of Proteinuria in Patients Treated with B12 Supplements: Do Not Forget Megaloblastic Anemia Type 1

Prevention of Acute GvHD Following Negative Functional Selection of Allogeneic T-Cells Using Fas Ligand Exposure of the Graft: Preliminary Results for Launching a Clinical Study

Efficacy and safety of autologous hematopoietic cell transplantation in elderly patients with multiple myeloma: a retrospective national multi-site cohort study

Efficacy and Safety of Autologus Hematopoietic Cell Transplantation in Elderly Patients with Multiple Myeloma: A Retrospective Israeli Multi-Site Cohort Study

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