Search Results - "Lukacs, Z"

Corrosion testing and evaluation of gas oil desulfurization reactor structure material in the presence of fatty acids by Lukács, Z., Molnár, F., Kovács, I., Wáhl Horváth, I., Hancsók, J., Kristóf, T.

“…•Pilot reactor tests for hydrodesulfurization of gas oil were carried out.•Long-term corrosion coupon experiments were performed with structure…”
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

“…Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at…”
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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort by Gutiérrez-Rivas, E, Bautista, J, Vílchez, J.J, Muelas, N, Díaz-Manera, J, Illa, I, Martínez-Arroyo, A, Olivé, M, Sanz, I, Arpa, J, Fernández-Torrón, R, López de Munáin, A, Jiménez, L, Solera, J, Lukacs, Z

“…Highlights • Consider Pompe disease in patients with limb-girdle muscular dystrophy or hyperCKemia. • DBS should be used for screening; biochemical and genetic…”
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Hard Ticks Infesting Dogs in Hungary and their Infection with Babesia and Borrelia Species by Földvári, G, Márialigeti, M, Solymosi, N, Lukács, Z, Majoros, G, Kósa, J. P, Farkas, R

“…A survey was carried out in Hungary to investigate the occurrence of hard tick species (Acari: Ixodidae) collected from dogs and Borrelia and Babesia spp…”
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Expert recommendations for the laboratory diagnosis of MPS VI by Wood, T., Bodamer, O.A., Burin, M.G., D'Almeida, V., Fietz, M., Giugliani, R., Hawley, S.M., Hendriksz, C.J., Hwu, W.L., Ketteridge, D., Lukacs, Z., Mendelsohn, N.J., Miller, N., Pasquali, M., Schenone, A., Schoonderwoerd, K., Winchester, B., Harmatz, P.

“…Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This…”
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PP03.8 – 2898: Late language acquisition and unexplained epilepsy are indicators of easily detectable CLN2 disease by Nickel, M, Schulz, A, Kohlschütter, A, Santer, R, Murko, S, Lukacs, Z

“…Objective Late-infantile CLN2 disease is caused by a deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) and is characterized by rapid…”
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Preliminary Investigation of the Prevalence and Genotype Distribution of Giardia intestinalis in Dogs in Hungary by Szénási, Z, Marton, S, Kucsera, I, Tánczos, B, Horváth, K, Orosz, E, Lukács, Z, Szeidemann, Z

“…In the genus Giardia (G.) intestinalis is the only species found in humans as well as in other mammals, including domestic and farm animals. Molecular…”
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3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells by Freudenberg, F, Lukacs, Z, Ullrich, K

“…Glutaric aciduria type I (GA I) is an autosomal recessive inherited metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCD) resulting in…”
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219 Incidence Testing of Hunter Syndrome in A Population at Risk - First Results of A Binational Screening Programme by Gödeke, J, Güth, C, Lampe, C, Reinke, J, Lagler, F, Lukacs, Z, Beck, M, Schweinitz, D von

“…Background Hunter syndrome (Mucopolysaccharidosis type II; X-linked inheritance; prevalence rate in Europe approximately 1:77000 male newborns) is a rare,…”
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P4.49 Screening program for adult Pompe disease in Czech Republic by Vohanka, S, Oslejskova, H, Hlavata, J, Lukacs, Z

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Efficiency of long‐term tetrahydrobiopterin monotherapy in phenylketonuria by Steinfeld, R., Kohlschütter, A., Ullrich, K., Lukacs, Z.

“…Phenylketonuria, an inborn error of phenylalanine metabolism, occurs with a frequency of about 1 in 10 000 births and is treated with a strict dietary regimen…”
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Diagnosis and therapy of late onset Pompe disease by Schüller, A, Kornblum, C, Deschauer, M, Vorgerd, M, Schrank, B, Mengel, E, Lukacs, Z, Gläser, D, Young, P, Plöckinger, U, Schoser, B

“…As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and…”
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Dried blood spots in the diagnosis of lysosomal storage disorders—Possibilities for newborn screening and high-risk population screening by Lukacs, Z., Nieves Cobos, P., Keil, A., Hartung, R., Mengel, E., Beck, M., Deschauer, M., Hanisch, F., Santer, R.

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International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes by Khneisser, I., Adib, S. M., Megarbane, A., Lukacs, Z.

“…Summary Tandem mass spectrometry (MS/MS) is rapidly gaining support, even in less-developed nations, as the method of choice for the newborn screening of…”
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Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients by Lukacs, Z., Hartung, R., Beck, M., Keil, A., Mengel, E.

“…Summary Anderson–Fabry disease is an X‐linked disorder that is caused by deficiency of the lysosomal enzyme α‐galactosidase A. Symptoms include chronic…”
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Membrane translocation of glutaric acid and its derivatives by Mühlhausen, C., Burckhardt, B. C., Hagos, Y., Burckhardt, G., Keyser, B., Lukacs, Z., Ullrich, K., Braulke, T.

“…Summary The neurodegenerative disorder glutaric aciduria type I (GA I) is characterized by increased levels of cytotoxic metabolites such as glutaric acid (GA)…”
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P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy by Husu, E.H, Preisler, N, Madsen, K, Hansen, R, Lukacs, Z, Laub, M, Dunoe, M, Andersen, H, Vinge, L, Vissing, J

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Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler) by GRIGULL, L, BEILKEN, A, WELTE, K, LUKACS, Z, GAL, A, SYKORA, K. W, SCHRAPPE, M, DAS, A, LUECKE, T, SANDER, A, STANULLA, M, REHE, K, SAUER, M, SCHMID, H

“…Hurler syndrome (MPS1H) is a progressive inborn error of mucopolysaccharide metabolism leading to premature death. Allogeneic hematopoietic cell…”
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Evaluation of model and dispersion parameters and their effects on the formation of constant-phase elements in equivalent circuits by LUKACS, Z

“…It was shown in a previous paper that the distortion induced by local inhomogeneities of equivalent-circuit model parameters in EIS data could be treated in…”
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The ratio of α‐galactosidase to β‐glucuronidase activities in dried blood for the identification of female Fabry disease patients by Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M., Mengel, E.

“…Summary Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of α‐galactosidase. We…”
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