Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

por Gelb, Michael H., Lukacs, Zoltan, Ranieri, Enzo, Schielen, Peter C. J. I.
Publicado 2018

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

por Lukacs, Zoltan, Oliva, Petra, Nieves Cobos, Paulina, Scott, Jacob, Mechtler, Thomas P., Kasper, David C.
Publicado 2020

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

por Wasserstein, Melissa, Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Wuh-Liang, Lidove, Olivier, Lukacs, Zoltan, Mengel, Eugen, Mistry, Pramod K., Schuchman, Edward H., McGovern, Margaret
Publicado 2018

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

por 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.
Publicado 2017

Diagnosing mucopolysaccharidosis IVA

por 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.
Publicado 2013

Megaphylogeny resolves global patterns of mushroom evolution

por 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.
Publicado 2019