Search Results - "Hulton, S A"

Renal tubular function in children with tyrosinaemia type I treated with nitisinone by Santra, S., Preece, M. A., Hulton, S.-A., McKiernan, P. J.

“…Summary Background: Tyrosinaemia type I (TTI) is an inherited deficiency in the enzyme fumarylacetoacetate hydrolase and is frequently complicated by renal…”
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Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis by 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.

“…Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,…”
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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness by 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

“…H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We…”
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Evaluation of urinary tract calculi in children by Hulton, S-A

“…1 The true incidence in childhood is not known, but a frequency of two children per million UK population per annum has been suggested. 2 Understanding the…”
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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment by 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

“…Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme…”
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Antenatal diagnosis of fetal renal calculus by Rhodes, C., Churchill, D., Hulton, S.‐A.

“…Pediatric urolithiasis is commonly associated with structural renal tract anomalies and metabolic disorders. Antenatal diagnosis of renal calculi is extremely…”
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Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34 by 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.

“…Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA…”
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Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy by 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

“…Primary hyperoxaluria (PH) as a cause of ESRD in children is believed to have poor outcomes. Data on management and outcomes of these children remain scarce…”
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Hypertension: a cause of growth impairment by DESHPANDE, P. V, GILBERT, R. D, WILLIAMS, J, HULTON, S. A, MILFORD, D. V

“…The effects of high blood pressure on growth are not fully understood and while hypertension may be associated with failure to thrive, hypertension causing…”
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Care in the use of ibuprofen as an antipyretic in children by Moghal, N E, Hulton, S A, Milford, D V

“…Ibuprofen is being widely used as an antipyretic in children. Recent studies indicate that it is as efficacious and with no significant difference in…”
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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 by 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

“…The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of α-intercalated cells of the cortical collecting…”
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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss by 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

“…Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased…”
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Cyclosporin-related nephrotoxicity in children with nephrotic syndrome by Ganesan, V, Milford, D V, Taylor, C M, Hulton, S A, Parvaresh, S, Ramani, P

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A case of neonatal Bartter's syndrome by Wong, W, Hulton, S A, Taylor, C M, Raafat, F, Lote, C J, Lindop, G

“…We describe a child with a neonatal presentation of Bartter's syndrome. Unlike infants previously described with a similar clinical presentation, the urinary…”
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The prevalence and treatment of end-stage renal disease in an Asian child population by MOGHAL, N. E, MILFORD, D. V, HULTON, S. A, TAYLOR, C. M

“…There are significant differences in the incidence and aetiology of end-stage renal disease (ESRD) between the Asian and white adult population in the UK. The…”
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Lymphocyte subpopulations, interleukin-2 and interleukin-2 receptor expression in childhood nephrotic syndrome by HULTON, S.-A, SHAH, S, BYRNE, M. R, MORGAN, G, BARRATT, T. M, DILLON, M. J

“…Abnormal T lymphocyte function and reduced interleukin-2 (IL-2) production have been implicated in the pathogenesis of the nephrotic syndrome (NS). We…”
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Vincristine and focal segmental sclerosis : do we need a multicentre trial? by GOONASEKERA, C. D. A, KOZIELL, A. B, HULTON, S. A, DILLON, M. J

“…Over the last 10 years, eight children have received vincristine for the treatment of steroid- and cyclophosphamide-resistant nephrotic syndrome at Great…”
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Combined liver–kidney transplantation for primary hyperoxaluria type 1 in young children by Ellis, Sally R., Hulton, Sally‐Anne, McKiernan, Patrick J., de Ville de Goyet, Jean, Kelly, Deirdre A.

“…Background. Primary hyperoxaluria type 1 (PH1) is a rare condition in which deficiency of the liver enzyme alanine:glyoxylate aminotransferase leads to renal…”
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Tubular proteinuria in steroid sensitive multi-relapsing nephrotic syndrome by Piqueras, A I, Shah, V, Hulton, S A, Barratt, T M, Dillon, M J

“…The urinary excretion of N-acetyl-beta-D-glucosaminidase (UNAG) and retinol binding protein (URBP) was studied in 65 children with steroid sensitive…”
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Hypertension: a cause of growth impairment by Deshpande, P V, Gilbert, R D, Williams, J, Hulton, S A, Milford, D V

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