Renal tubular function in children with tyrosinaemia type I treated with nitisinone
Santra, S., Preece, M. A., Hulton, S.-A., McKiernan, P. J.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis
Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., Di Pietro, A., Walker, W. G., Lifton, R. P.
Published in Proceedings of the National Academy of Sciences - PNAS (26.05.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (26.05.1998)
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Journal Article
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
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Journal Article
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
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Journal Article
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd
Published in Nephrology, dialysis, transplantation (01.05.2012)
Published in Nephrology, dialysis, transplantation (01.05.2012)
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Journal Article
Antenatal diagnosis of fetal renal calculus
Rhodes, C., Churchill, D., Hulton, S.‐A.
Published in Ultrasound in obstetrics & gynecology (01.05.2005)
Published in Ultrasound in obstetrics & gynecology (01.05.2005)
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Journal Article
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy
Harambat, Jérôme, van Stralen, Karlijn J, Espinosa, Laura, Groothoff, Jaap W, Hulton, Sally-Anne, Cerkauskiene, Rimante, Schaefer, Franz, Verrina, Enrico, Jager, Kitty J, Cochat, Pierre
Published in Clinical journal of the American Society of Nephrology (01.03.2012)
Published in Clinical journal of the American Society of Nephrology (01.03.2012)
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Journal Article
Hypertension: a cause of growth impairment
DESHPANDE, P. V, GILBERT, R. D, WILLIAMS, J, HULTON, S. A, MILFORD, D. V
Published in Journal of human hypertension (01.05.2002)
Published in Journal of human hypertension (01.05.2002)
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Journal Article
Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
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Journal Article
Cyclosporin-related nephrotoxicity in children with nephrotic syndrome
Ganesan, V, Milford, D V, Taylor, C M, Hulton, S A, Parvaresh, S, Ramani, P
Published in Pediatric nephrology (Berlin, West) (01.03.2002)
Published in Pediatric nephrology (Berlin, West) (01.03.2002)
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Journal Article
A case of neonatal Bartter's syndrome
Wong, W, Hulton, S A, Taylor, C M, Raafat, F, Lote, C J, Lindop, G
Published in Pediatric nephrology (Berlin, West) (01.08.1996)
Published in Pediatric nephrology (Berlin, West) (01.08.1996)
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Journal Article
The prevalence and treatment of end-stage renal disease in an Asian child population
MOGHAL, N. E, MILFORD, D. V, HULTON, S. A, TAYLOR, C. M
Published in Nephrology, dialysis, transplantation (01.12.1997)
Published in Nephrology, dialysis, transplantation (01.12.1997)
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Journal Article
Vincristine and focal segmental sclerosis : do we need a multicentre trial?
GOONASEKERA, C. D. A, KOZIELL, A. B, HULTON, S. A, DILLON, M. J
Published in Pediatric nephrology (Berlin, West) (01.05.1998)
Published in Pediatric nephrology (Berlin, West) (01.05.1998)
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Journal Article
Tubular proteinuria in steroid sensitive multi-relapsing nephrotic syndrome
Piqueras, A I, Shah, V, Hulton, S A, Barratt, T M, Dillon, M J
Published in Clinical nephrology (01.07.1993)
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Published in Clinical nephrology (01.07.1993)
Journal Article
Hypertension: a cause of growth impairment
Deshpande, P V, Gilbert, R D, Williams, J, Hulton, S A, Milford, D V
Published in Journal of human hypertension (01.05.2002)
Published in Journal of human hypertension (01.05.2002)
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Journal Article