检索结果 - Lukacs, Zoltan

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

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Seroprevalence of Some Vector-Borne Infections of Dogs in Hungary 由 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 由 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 由 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 由 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 由 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 由 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) 由 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) 由 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 由 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 由 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 由 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 由 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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