Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease by Mierzewska, H., Rydzanicz, M., Biegański, T., Kosinska, J., Mierzewska‐Schmidt, M., Ługowska, A., Pollak, A., Stawiński, P., Walczak, A., Kędra, A., Obersztyn, E., Szczepanik, E., Płoski, R.

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Late onset GM2 gangliosidosis mimicking spinal muscular atrophy by Jamrozik, Z., Ługowska, A., Gołębiowski, M., Królicki, L., Mączewska, J., Kuźma-Kozakiewicz, M.

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Non-neuronopathic Gaucher disease due to saposin C deficiency by Tylki-Szymańska, A, Czartoryska, B, Vanier, M-T, Poorthuis, BJMH, Groener, JAE, Ługowska, A, Millat, G, Vaccaro, AM, Jurkiewicz, E

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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases by Kuchar, L., Sikora, J., Gulinello, M.E., Poupetova, H., Lugowska, A., Malinova, V., Jahnova, H., Asfaw, B., Ledvinova, J.

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Molecular and clinical consequences of novel mutations in the arylsulfatase A gene by Ługowska, A, Wlodarski, P, Płoski, R, Mierzewska, H, Dudzińska, M, Matheisel, A, Świętochowska, H, Tylki-Szymańska, A

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Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism by Ługowska, A, Tylki-Szymańska, A

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland by Ługowska, A, Berger, J, Tylki-Szymańska, A, Löschl, B, Molzer, B, Zobel, M, Czartoryska, B

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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.

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The prevalence and diagnosis of lysosomal storage diseases in Poland by TYLKI-SZYMANSKA, Anna, CZARTORYSKA, Barbara, ŁUGOWSKA, Agnieszka, GORSKA, Danuta

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Erdafitinib in patients with advanced solid tumours with FGFR alterations (RAGNAR): an international, single-arm, phase 2 study by Pant, Shubham, Schuler, Martin, Iyer, Gopa, Witt, Olaf, Doi, Toshihiko, Qin, Shukui, Tabernero, Josep, Lugowska, Iwona, Carranza, Omar, Arnold, Dirk, Gutierrez, Martin, Winter, Helen, Stuyckens, Kim, Crow, Lauren, Najmi, Saltanat, Thomas, Shibu, Santiago-Walker, Ademi, Triantos, Spyros, Sweiti, Hussein, Loriot, Yohann, Carranza, Omar, Coward, Jim, Joshua, Anthony, Karapetis, Christos, Hart, Christopher, Zhang, Alison, Prenen, Hans, Goeminne, Jean-Charles, Machiels, Jean-Pascal, Rottey, Sylvie, Corassa, Marcelo, Molin, Graziela Zibetti Dal, Tiscoski, Katsuki, Mak, Milena, Fu, Wei, Yao, Herui, Jiang, Haiping, Qin, Shukui, Chen, Baoshi, Yang, Yu, Loriot, Yohann, Le Tourneau, Christophe, Penel, Nicolas, Durando, Xavier, Emambux, Sheik, Folprecht, Gunnar, Arnold, Dirk, Schuler, Martin, Ahrens, Marit, Golf, Alexander, Haag, Georg Martin, Desuki, Alexander, Cazzaniga, Marina, Ciardiello, Fortunato, Koyama, Takafumi, Aogi, Kenjiro, Kuboki, Yasutoshi, Lee, Jungyun, Kim, Sung-Bae, Chang, Jong Hee, Kim, Yong-Man, Nam, Do-Hyun, Park, Jae-Sung, Lugowska, Iwona, Paz-Ares, Luis, Moreno, Victor, Calvo, Mariona, Falcon, Alejandro, Gonzalez, Antonio, Tabernero, Josep, Martinez Bueno, Alejandro, García-Corbacho, Javier, Chen, Jen-Shi, Hou, Ming-Feng, Chao, Yee, Rau, Kun-Ming, Chiu, Tai-Jan, Feng, Yin-Hsun, Hsu, Chih-Hung, Lai, Kuan-Ming, Yeh, Su-peng, Minchom, Anna, Welsh, Liam, Plummer, Ruth, Gutierrez, Martin, Arrowsmith, Edward, Pant, Shubham, Spigel, David Robert, Zandberg, Dan Paul, Doroshow, Deborah, Moezi, Mehdi, Paulson, Scott, Reardon, David, Ward, Patrick, Chaves, Jorge, Hussein, Atif, Manda, Sudhir, Richey, Stephen L, Tamura, David, Wilks, Sharon

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PCM4EU and PRIME-ROSE: Collaboration for implementation of precision cancer medicine in Europe by Taskén, Kjetil, F Haj Mohammad, Soemeya, Fagereng, Gro Live, Sørum Falk, Ragnhild, Helland, Åslaug, Barjesteh van Waalwijk van Doorn-Khosrovani, Sahar, Steen Carlsson, Katarina, Ryll, Bettina, Jalkanen, Katriina, Edsjö, Anders, Russnes, Hege G, Lassen, Ulrik, Hallersjö Hult, Ebba, Lugowska, Iwona, Blay, Jean-Yves, Verlingue, Loic, Abel, Edvard, Lowery, Maeve A, Krebs, Matthew G, Staal Rohrberg, Kristoffer, Ojamaa, Kristiina, Oliveira, Julio, Verheul, Henk M W, Voest, Emile E, Gelderblom, Hans

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland: Metachromatic leukodystrophy in Poland by Ługowska, A, Berger, J, Tylki-Szymańska, A, Löschl, B, Molzer, B, Zobel, M, Czartoryska, B

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High‐throughput molecular assays for inclusion in personalised oncology trials – State‐of‐the‐art and beyond by Edsjö, Anders, Russnes, Hege G., Lehtiö, Janne, Tamborero, David, Hovig, Eivind, Stenzinger, Albrecht, Rosenquist, Richard, Janowska, Agnieszka, Rioja, Alba López, Stenzinger, Albrecht, Razzak, Ali, Edsjö, Anders, Lepland, Anni, Marra, Antonio, Planken, Anu, Helland, Åslaug, Patocs, Attila, Mainoli, Beatrice, Ryll, Bettina, Brasiuniene, Birute, Kazdal, Daniel, Tamborero, David, Cerina, Dora, Hult, Ebba Hallersjö, Baltruškevičienė, Edita, Vrdoljak, Eduard, Hovig, Eivind, Chavarria, Elena, Garralda, Elena, Aas, Eline, Bjørgo, Elisa, Voest, Emile, Curigliano, Giuseppe, Fagereng, Gro Live, Gelderblom, Hans, Russnes, Hege G., Verheul, Henk, Timmer, Hans, Brana, Irene, Lugowska, Iwona, Lehtiö, Janne, Blay, Jean‐Yves, Oliveira, Julio, Rekker, Kadri, Toome, Kadri, Jalkanen, Katriina, Taskén, Kjetil, Smeland, Knut, Ojamaa, Kristiina, Rohrberg, Kristoffer Staal, Verlingue, Loic, Antouly, Manon, Mustonen, Mika, Zagami, Paola, Nagy, Péter, Nygren, Peter, Asplund, Peter, Sabaliauskaite, Rasa, Rosenquist, Richard, Henrique, Rui, Waalwijk van Doorn‐Khosrovani, Sahar Barjesteh, Brabrand, Sigmund, Ekman, Simon, Mohammad, Soemeya Haj, Jarmalaite, Sonata, Juslin, Tanja, Kahre, Tiina, Kringelbach, Tina, Guren, Tormod, Lassen, Ulrik, Grolmusz, Vince Kornél, Alberu, Xenia Villabour

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Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome by Kostera-Pruszczyk, Anna, Opuchlik, Andrzej, Ługowska, Agnieszka, Nadaj, Aleksandra, Bojakowski, Jacek, Tylki-Szymanska, Anna, Kaminska, Anna

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Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease by Czartoryska, Barbara, Tylki-Szymańska, Anna, Ługowska, Agnieszka

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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries by Lugowska, Agnieszka, Amaral, Olga, Berger, Johannes, Berna, Linda, Bosshard, Nils U., Chabas, Amparo, Fensom, Anthony, Gieselmann, Volkmar, Gorovenko, Natalia G., Lissens, Willy, Mansson, Jan-Eric, Marcao, Ana, Michelakakis, Helen, Bernheimer, Hanno, Ol’khovych, Natalia V., Regis, Stefano, Sinke, Richard, Tylki-Szymanska, Anna, Czartoryska, Barbara

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Short Report: Non-neuronopathic Gaucher disease due to saposin C deficiency by Tylki-Szymanska, A, Czartoryska, B, Vanier, M-T, Poorthuis, BJMH, Groener, JAE, Lugowska, A, Millat, G, Vaccaro, AM, Jurkiewicz, E

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Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele by Ługowska, Agnieszka, Tylki-Szymańska, Anna, Berger, Johannes, Molzer, Brunhilde

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High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy by Lugowska, A, Berger, J, Tylki-Szymañska, A, Czartoryska, B, Löschl, B, Molzer, B

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Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland by Tylki‐Szymanska, Anna, Czartoryska, Barbara, Lugowska, Agnieszka, Verheijen, Frans W, Mancini, Grazia M S, Rokicki, Dariusz, Taybert, Joanna, Chmielinska, Elzbieta

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