Search Results - "Šebesta, I."

Hereditary xanthinuria is not so rare disorder of purine metabolism by Sebesta, I., Stiburkova, B., Krijt, J.

“…Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of…”
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Purine and Pyrimidine Metabolism: a Firm Basis for a Transformed Society by Peters, G. J., Carrey, E. A., Šebesta, I.

“…Purines and pyrimidines form the backbone of DNA and RNA. Hence, modification of purine and pyrimidine metabolism can have serious effects on normal…”
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Analysis of Excretion Fraction of Uric Acid by Stibůrková, B., Pospíšilová, E., Kmoch, S., Šebesta, I.

“…Excretion fraction of uric acid (EF UA ), is one of the most important hallmarks for diagnosis of familial juvenile hyperuricemic nephropathy (FJHN) and…”
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Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients by Šebesta, I., Krijt, J., Kmoch, S., Hartmannová, H., Wojda, M., Zeman, J.

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Unusual Presentation of Kelley-Seegmiller Syndrome by Sebesta, I., StibÅrková, B., Dvorakova, L., Hrebicek, M., Minks, J., Stolnaja, L., Vernerova, Z., Rychlik, I.

“…Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a…”
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An Unusual Cause of Renal Amyloidosis Secondary to Gout-the First Description of Familial Occurrence by Vernerová, Z., Rychlík, I., Brunerová, L., Dvořáková, L., Pavelková, A., Šebesta, I.

“…Background: AA amyloidosis caused by the chronic inflammation accompanying gouty arthritis is extremely rare and familial occurrence has not been described so…”
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469 DIAGNOSTIC APPROACH TO HEREDITARY RENAL HYPOURICEMIA by Sebesta, I, Stiburkova, B

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Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency by Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H.A., Tischfield, J.A., Sahota, A.

“…We describe a Czech patient with combined adenine phosphoribosyltransferase (APRT) deficiency (2,8-dihydroxyadenine urolithiasis) and…”
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The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk by Sebesta, I, Fairbanks, L D, Davies, P M, Simmonds, H A, Leonard, J V

“…The increase in orotidine excretion following a 300 mg allopurinol dose has been used for carrier detection in ornithine carbamoyl transferase (OCT)…”
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Analysis of patients with renal hypouricemia in Czech population by Stiburkova, B., Sebesta, I., Ichida, K., Hosoyamada, M.

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The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency by Sebesta, I., Krijt, J., Fairbanks, L. D., Simmonds, H. A.

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Succinyladenosine is a normal component of cerebrospinal fluid by Krijt, J., Kmoch, S., Hartmannová, H., Šebesta, I., Havliček, V.

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Clinical and biochemical heterogeneity in 5 patients with adenylosuccinase deficiency by Šebesta, I., Krijt, J., Kmoch, S., Hartmannová, H., Zeman, J.

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Genetic diseases by Inazu, T., Kawahara, T., Endou, H., Anzai, N., Sebesta, I., Stiburkova, B., Ichida, K., Hosoyamada, M., Testa, A., Leonardis, D., Catalano, F., Pisano, A., Mafrica, A., Spoto, B., Sanguedolce, M. C., Parlongo, R. M., Tripepi, G., Postorino, M., Enia, G., Zoccali, C., Mallamaci, F., Working Group, M., Luque de Pablos, A., Garcia-Nieto, V., Lopez-Menchero, J. C., Ramos-Trujillo, E., Gonzalez-Acosta, H., Claverie-Martin, F., Arsali, M., Demosthenous, P., Papazachariou, L., Athanasiou, Y., Voskarides, K., Deltas, C., Pierides, A., Lee, S., Jeong, K. H., Ihm, C., Lee, T. W., Lee, S. H., Moon, J. Y., Wi, J. G., Lee, H. J., Kim, E. Y., Rogacev, K., Friedrich, A., Hummel, B., Berg, J., Zawada, A., Fliser, D., Geisel, J., Heine, G. H., Brabcova, I., Dusilova-Sulkova, S., Krejcik, Z., Stranecky, V., Lipar, K., Marada, T., Stepankova, J., Viklicky, O., Buraczynska, M., Zukowski, P., Zaluska, W., Kuczmaszewska, A., Ksiazek, A., Gaggl, M., Weidner, S., Hofer, M., Kleinert, J., Fauler, G., Wallner, M., Kotanko, P., Sunder-Plassmann, G., Paschke, E., Heguilen, R., Albarracin, L., Politei, J., Liste, A. A., Bernasconi, A., Kusano, E., Russo, R., Pisani, A., Messalli, G., Imbriaco, M., Prikhodina, L., Ryzhkova, O., Polyakov, V., Lipkowska, K., Ostalska-Nowicka, D., Smiech, M., Jaroniec, M., Zaorska, K., Szaflarski, W., Nowicki, M., Zachwieja, J., D'arrigo, G., Moskowitz, J., Piret, S., Tashman, A., Velez, E.

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Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients by KMOCH, S, HARTMANNOVA, H, STIBURKOVA, B, KRIJT, J, ZIKANOVA, M, SEBESTA, I

“…Adenylosuccinate lyase (ADSL) is a bifunctional enzyme acting in de novo purine synthesis and purine nucleotide recycling. ADSL deficiency is a selectively…”
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Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity by Stibůrková, Blanka, Majewski, Jacek, Šebesta, Ivan, Zhang, Wenyong, Ott, Jurg, Kmoch, Stanislav

“…Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis,…”
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The importance of uric acid examination by Sebesta, I, Krijt, J, Schneiderka, P

“…Uric acid is the end product of purine metabolism in man. The findings of human pathological levels of uric acid in serum and urine have in most patients…”
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Diagnostic aspects of familial juvenile hyperuriceamic nephropathy by Stibůrková, B, Sebesta, I, Kmoch, S

“…BACKGROUND; Familial juvenile hyperuricemic nephropathy (FJHN) is a genetic disorder with the autosomal dominant mode of hereditability; characterized with…”
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Screening tests for adenylosuccinase deficiency by Šebesta, I., Shobowale, M., Krijt, J., Simmonds, H.A.

“…Introduction: Adenylosuccinase (ADS) deficiency is a rare disorder of purine metabolism which presents as psychomotor retardation of varying degree. Systematic…”
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Adenylosuccinate lyase deficiency in a Czech girl and two siblings by Krijt, J, Sebesta, I, Svehlakova, A, Zumrova, A, Zeman, J

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