Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2 by Sivananthan, Siyamini, Lee, Laura, Anderson, Glenn, Csanyi, Barbara, Williams, Ruth, Gissen, Paul

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study by Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul

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Metachromatic leukodystrophy: A single centre review of features at diagnosis and barriers to accessing treatment by Sivananthan, Siyamini, Davison, James, Chakrapani, Anupam, Gissen, Paul

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Results of a phase III, randomized, placebo-controlled crossover trial with -acetyl-L-leucine for Niemann-Pick disease type C by Fields, Taylor, Bremova-Ertl, Tatiana, Ramaswami, Uma, Brands, Marion, Gautschi, Matthias, Gissen, Paul, Hahn, Andreas, Jones, Simon, Kolnikova, Miriam, Arash-Karps, Laila, Mengel, Eugen, Park, Julien, Reichmannová, Stella, Schneider, Susanne, Sivananthan, Siyamini, Walterfang, Mark, Wibawa, Pierre, Strupp, Michael, Martakis, Kyriakos

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Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C by Fields, Taylor, Bremova-Ertl, Tatiana, Ramaswami, Uma, Brands, Marion, Gautschi, Matthias, Gissen, Paul, Hahn, Andreas, Jones, Simon, Kolnikova, Miriam, Arash-Karps, Laila, Mengel, Eugen, Park, Julien, Reichmannová, Stella, Schneider, Susanne, Sivananthan, Siyamini, Walterfang, Mark, Wibawa, Pierre, Strupp, Michael, Martakis, Kyriakos

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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders by Park, Julien, Bremova-Ertl, Tatiana, Brands, Marion, Foltan, Tomas, Gautschi, Matthias, Gissen, Paul, Hahn, Andreas, Jones, Simon, Arash-Kaps, Laila, Kolnikova, Miriam, Patterson, Marc, Perlman, Susan, Ramaswami, Uma, Reichmannová, Stella, Rohrbach, Marianne, Schneider, Susanne A., Shaikh, Aasef, Sivananthan, Siyamini, Synofzik, Matthis, Walterfarng, Mark, Wibawa, Pierre, Martakis, Kyriakos, Manto, Mario

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Disease course after cessation of enzyme replacement therapy (ERT) in 5 patients with type II mucopolysaccharidosis (MPS II) by Sivananthan, Siyamini, Stewart, Catherine, Finnegan, Niamh, Santra, Saikat, Vellodi, Ashok, Cleary, Maureen, Chakrapani, Anupam

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