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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Nephrology, dialysis, transplantation, 2012-05, Vol.27 (5), p.1729-1736

2012

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Renal tubular function in children with tyrosinaemia type I treated with nitisinone

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.399-402

2008

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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Journal of medical genetics, 2002-11, Vol.39 (11), p.796-803

2002

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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Nature genetics, 1999-01, Vol.21 (1), p.84-90

1999

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Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis

Proceedings of the National Academy of Sciences - PNAS, 1998-05, Vol.95 (11), p.6337-6342

1998

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Evaluation of urinary tract calculi in children

Archives of disease in childhood, 2001-04, Vol.84 (4), p.320-323

Hulton, S-A

2001

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Renormalization of fluctuations for a generalized Harper equation for periodic continued fractions

Dynamical systems (London, England), 2015-01, Vol.30 (1), p.85-121

2015

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Antenatal diagnosis of fetal renal calculus

Ultrasound in obstetrics & gynecology, 2005-05, Vol.25 (5), p.517-518

2005

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Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Nature genetics, 2000-09, Vol.26 (1), p.71-75

2000

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ERIC sequences: a novel family of repetitive elements in the genomes of Escherichia coli, Salmonella typhimurium and other enterobacteria

Molecular microbiology, 1991-04, Vol.5 (4), p.825-834

1991

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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34

American journal of human genetics, 1999-12, Vol.65 (6), p.1656-1665

1999

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The medium term outcome of chronic dialysis in children under the age of two

Archives of disease in childhood, 2011-04, Vol.96 (Suppl 1), p.A70-A70

2011

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Plasma oxalate and eGFR are correlated in primary hyperoxaluria patients with maintained kidney function—data from three placebo-controlled studies

Pediatric nephrology (Berlin, West), 2021-07, Vol.36 (7), p.1785-1793

2021

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

Nephrology, dialysis, transplantation, 2011-11, Vol.26 (11), p.3609-3615

2011

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Combined liver–kidney transplantation for primary hyperoxaluria type 1 in young children

Nephrology, dialysis, transplantation, 2001-02, Vol.16 (2), p.348-354

2001

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Speckle tracking echocardiography (STE) in patients with primary hyperoxularia type 1 (PH1)

European heart journal cardiovascular imaging, 2022-02, Vol.23 (Supplement_1)

2022

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Protein H1: a role for chromatin structure in the regulation of bacterial gene expression and virulence?

Molecular microbiology, 1990-12, Vol.4 (12), p.2007-2012

1990

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Hypertension: a cause of growth impairment

Journal of human hypertension, 2002-05, Vol.16 (5), p.363-366

2002

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Urinary l-lactate excretion is increased in renal Fanconi syndrome

Nephrology, dialysis, transplantation, 2004-07, Vol.19 (7), p.1767-1773

2004

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Cyclosporin-related nephrotoxicity in children with nephrotic syndrome

Pediatric nephrology (Berlin, West), 2002-03, Vol.17 (3), p.225-226

2002

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Lymphocyte subpopulations, interleukin-2 and interleukin-2 receptor expression in childhood nephrotic syndrome

Pediatric nephrology (Berlin, West), 1994-04, Vol.8 (2), p.135-139

1994

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Care in the use of ibuprofen as an antipyretic in children

Clinical nephrology, 1998-05, Vol.49 (5), p.293

1998

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The prevalence and treatment of end-stage renal disease in an Asian child population

Nephrology, dialysis, transplantation, 1997-12, Vol.12 (12), p.2517-2520

1997

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Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration

Nephrology, dialysis, transplantation, 2011, Vol.26 (1), p.354-359

2011

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Long-term cyclosporin A treatment of minimal-change nephrotic syndrome of childhood

Pediatric nephrology (Berlin, West), 1994-08, Vol.8 (4), p.401-403

1994

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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Renal tubular function in children with tyrosinaemia type I treated with nitisinone

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis

Evaluation of urinary tract calculi in children

Renormalization of fluctuations for a generalized Harper equation for periodic continued fractions

Antenatal diagnosis of fetal renal calculus

Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

ERIC sequences: a novel family of repetitive elements in the genomes of Escherichia coli, Salmonella typhimurium and other enterobacteria

Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34

The medium term outcome of chronic dialysis in children under the age of two

Plasma oxalate and eGFR are correlated in primary hyperoxaluria patients with maintained kidney function—data from three placebo-controlled studies

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

Combined liver–kidney transplantation for primary hyperoxaluria type 1 in young children

Speckle tracking echocardiography (STE) in patients with primary hyperoxularia type 1 (PH1)

Protein H1: a role for chromatin structure in the regulation of bacterial gene expression and virulence?

Hypertension: a cause of growth impairment

Urinary l-lactate excretion is increased in renal Fanconi syndrome

Cyclosporin-related nephrotoxicity in children with nephrotic syndrome

Lymphocyte subpopulations, interleukin-2 and interleukin-2 receptor expression in childhood nephrotic syndrome

Care in the use of ibuprofen as an antipyretic in children

The prevalence and treatment of end-stage renal disease in an Asian child population

Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration

Long-term cyclosporin A treatment of minimal-change nephrotic syndrome of childhood

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