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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

The New England journal of medicine, 2021-04, Vol.384 (13), p.1216-1226

2021

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Cysteamine Toxicity in Patients with Cystinosis

The Journal of pediatrics, 2011-12, Vol.159 (6), p.1004-1011

2011

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Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Kidney international, 2009-04, Vol.75 (8), p.848-855

2009

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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Kidney international, 2018-04, Vol.93 (4), p.961-967

2018

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Clinical and molecular aspects of distal renal tubular acidosis in children

Pediatric nephrology (Berlin, West), 2017-06, Vol.32 (6), p.987-996

2017

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Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

Clinical science (1979), 2014-05, Vol.126 (10), p.721-726

2014

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Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

American journal of human genetics, 2001-01, Vol.68 (1), p.219-224

2001

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Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial

Clinical journal of the American Society of Nephrology, 2021-07, Vol.16 (7), p.1025-1036

2021

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Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

European journal of pediatrics, 2004-10, Vol.163 (10), p.589-594

2004

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Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

Human molecular genetics, 2015-09, Vol.24 (18), p.5079-5092

2015

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The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3

Nephrology, dialysis, transplantation, 2012-08, Vol.27 (8), p.3191-3195

2012

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Aetiological Factors in Paediatric Urolithiasis

Nephron. Clinical practice, 2004-01, Vol.98 (2), p.c45-c48

van’t Hoff, William G.

2004

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Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria

Urolithiasis, 2009-06, Vol.37 (3), p.127-132

2009

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Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome

Pediatric nephrology (Berlin, West), 2005-02, Vol.20 (2), p.136-140

2005

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Immunolocalization of cystinosin, the protein defective in cystinosis

Journal of the American Society of Nephrology, 2002-08, Vol.13 (8), p.2046-2051

2002

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Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

Kidney international, 2003-05, Vol.63 (5), p.1645-1651

2003

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Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

Journal of the American Society of Nephrology, 2000-08, Vol.11 (8), p.1460-1468

2000

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Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up

Pediatric nephrology (Berlin, West), 2005-08, Vol.20 (8), p.1098-1105

2005

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EUNEFRON, the European Network for the Study of Orphan Nephropathies

Nephrology, dialysis, transplantation, 2009-07, Vol.24 (7), p.2011-2015

2009

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Hypercalciuria in children with decreased muscle mass-urine calcium : osmolality versus urine calcium : creatinine

Nature clinical practice. Nephrology, 2006-06, Vol.2 (6), p.308-309

van't Hoff, William G

2006

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Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children

Pediatric nephrology (Berlin, West), 2017-06, Vol.32 (6), p.1095-1095

2017

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Neonatal nephrocalcinosis in association with glucose-galactose malabsorption

Pediatric nephrology (Berlin, West), 2003-07, Vol.18 (7), p.700-702

2003

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Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells

Pediatric nephrology (Berlin, West), 2006-04, Vol.21 (4), p.503-509

2006

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Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

Pediatric nephrology (Berlin, West), 2003-07, Vol.18 (7), p.712-713

2003

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Treatment with recombinant human growth hormone in short children with nephropathic cystinosis : No evidence for increased deterioration rate of renal function

Pediatric research, 1998-04, Vol.43 (4), p.484-488

1998

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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

Cysteamine Toxicity in Patients with Cystinosis

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Clinical and molecular aspects of distal renal tubular acidosis in children

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

Phase 1/2 Study of Lumasiran for Treatment of Primary Hyperoxaluria Type 1: A Placebo-Controlled Randomized Clinical Trial

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3

Aetiological Factors in Paediatric Urolithiasis

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria

Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome

Immunolocalization of cystinosin, the protein defective in cystinosis

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up

EUNEFRON, the European Network for the Study of Orphan Nephropathies

Hypercalciuria in children with decreased muscle mass-urine calcium : osmolality versus urine calcium : creatinine

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children

Neonatal nephrocalcinosis in association with glucose-galactose malabsorption

Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells

Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

Treatment with recombinant human growth hormone in short children with nephropathic cystinosis : No evidence for increased deterioration rate of renal function

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