Výsledky vyhledávání - Lukacs, Zoltan

A Description of Reference Ranges for Organic Acids in Urine Samples from A Pediatric Population in Iran Autor Keyfi, Fatemeh, Lukacs, Zoltan, Varasteh, Abdolreza

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Seroprevalence of Some Vector-Borne Infections of Dogs in Hungary Autor Farkas, Robert, Gyurkovszky, Mónika, Lukács, Zoltán, Aladics, Balázs, Solymosi, Norbert

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Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis Autor Cobos, Paulina Nieves, Steglich, Cordula, Santer, René, Lukacs, Zoltan, Gal, Andreas

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Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant Autor Hoehn, Thomas, Lukacs, Zoltan, Huckenbeck, Wolfgang, Torresani, Toni, Blankenstein, Oliver, Bounnack, Saysanasongkham

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Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots Autor Gelb, Michael H., Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C. J. I.

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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening Autor Lukacs, Zoltan, Oliva, Petra, Nieves Cobos, Paulina, Scott, Jacob, Mechtler, Thomas P., Kasper, David C.

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Pharmacokinetic and pharmacodynamic properties of oral L-citrulline and L-arginine: impact on nitric oxide metabolism Autor Schwedhelm, Edzard, Maas, Renke, Freese, Ralf, Jung, Donald, Lukacs, Zoltan, Jambrecina, Alen, Spickler, William, Schulze, Friedrich, Böger, Rainer H

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Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) Autor Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus

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Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) Autor Wasserstein, Melissa, Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Wuh-Liang, Lidove, Olivier, Lukacs, Zoltan, Mengel, Eugen, Mistry, Pramod K., Schuchman, Edward H., McGovern, Margaret

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency Autor McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.

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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness Autor Lukacs, Zoltan, Nieves Cobos, Paulina, Wenninger, Stephan, Willis, Tracey A., Guglieri, Michela, Roberts, Marc, Quinlivan, Rosaline, Hilton-Jones, David, Evangelista, Teresinha, Zierz, Stephan, Schlotter-Weigel, Beate, Walter, Maggie C., Reilich, Peter, Klopstock, Thomas, Deschauer, Marcus, Straub, Volker, Müller-Felber, Wolfgang, Schoser, Benedikt

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Diagnosing mucopolysaccharidosis IVA Autor Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.

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Megaphylogeny resolves global patterns of mushroom evolution Autor Varga, Torda, Krizsán, Krisztina, Földi, Csenge, Dima, Bálint, Sánchez-García, Marisol, Sánchez-Ramírez, Santiago, Szöllősi, Gergely J., Szarkándi, János G., Papp, Viktor, Albert, László, Andreopoulos, William, Angelini, Claudio, Antonín, Vladimír, Barry, Kerrie W., Bougher, Neale L., Buchanan, Peter, Buyck, Bart, Bense, Viktória, Catcheside, Pam, Chovatia, Mansi, Cooper, Jerry, Dämon, Wolfgang, Desjardin, Dennis, Finy, Péter, Geml, József, Haridas, Sajeet, Hughes, Karen, Justo, Alfredo, Karasiński, Dariusz, Kautmanova, Ivona, Kiss, Brigitta, Kocsubé, Sándor, Kotiranta, Heikki, LaButti, Kurt M., Lechner, Bernardo E., Liimatainen, Kare, Lipzen, Anna, Lukács, Zoltán, Mihaltcheva, Sirma, Morgado, Louis N., Niskanen, Tuula, Noordeloos, Machiel E., Ohm, Robin A., Ortiz-Santana, Beatriz, Ovrebo, Clark, Rácz, Nikolett, Riley, Robert, Savchenko, Anton, Shiryaev, Anton, Soop, Karl, Spirin, Viacheslav, Szebenyi, Csilla, Tomšovský, Michal, Tulloss, Rodham E., Uehling, Jessie, Grigoriev, Igor V., Vágvölgyi, Csaba, Papp, Tamás, Martin, Francis M., Miettinen, Otto, Hibbett, David S., Nagy, László G.

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