Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
Mills, Philippa B., Surtees, Robert A.H., Champion, Michael P., Beesley, Clare E., Dalton, Neil, Scambler, Peter J., Heales, Simon J.R., Briddon, Anthony, Scheimberg, Irene, Hoffmann, Georg F., Zschocke, Johannes, Clayton, Peter T.
Published in Human molecular genetics (15.04.2005)
Published in Human molecular genetics (15.04.2005)
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Journal Article
IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I
Ghosh, Arunabha, Mercer, Jean, Mackinnon, Sabrina, Yue, Wyatt W, Church, Heather, Beesley, Clare E, Broomfield, Alex, Jones, Simon A, Tylee, Karen
Published in Human mutation (01.11.2017)
Published in Human mutation (01.11.2017)
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Journal Article
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.
Published in Human mutation (01.01.2004)
Published in Human mutation (01.01.2004)
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Journal Article
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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Journal Article
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry
Beesley, Clare E., Young, Elisabeth P., Finnegan, Niamh, Jackson, Marie, Mills, Kevin, Vellodi, Ashok, Cleary, Maureen, Winchester, Bryan G.
Published in Molecular genetics and metabolism (01.04.2009)
Published in Molecular genetics and metabolism (01.04.2009)
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Journal Article
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.
Published in Human mutation (01.01.2004)
Published in Human mutation (01.01.2004)
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Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
Beesley, Clare E., Concolino, Daniela, Filocamo, Mirella, Winchester, Bryan G., Strisciuglio, Pietro
Published in Molecular genetics and metabolism (01.01.2007)
Published in Molecular genetics and metabolism (01.01.2007)
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Journal Article
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
Beesley, Clare E., Concolino, Daniela, Filocamo, Mirella, Winchester, Bryan G., Strisciuglio, Pietro
Published in Molecular genetics and metabolism (2007)
Published in Molecular genetics and metabolism (2007)
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Journal Article
Case of X-linked myopathy with excessive autophagy
Chow, Gabriel, Beesley, Clare E, Robson, Keith, Winchester, Bryan G, Holton, Janice L
Published in Journal of child neurology (01.05.2006)
Published in Journal of child neurology (01.05.2006)
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Journal Article
Mutational analysis of 85 mucopolysaccharidosis type I families : frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
BEESLEY, Clare E, MEANEY, Cathy A, GREENLAND, Gavin, ADAMS, Vanessa, VELLODI, Ashok, YOUNG, Elisabeth P, WINCHESTER, Bryan G
Published in Human genetics (01.11.2001)
Published in Human genetics (01.11.2001)
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Journal Article
A case of X Linked myopathy with autophagy
Chow, G, Beesley, Clare E, Winchester, Bryan G, Holton, Janice
Published in Developmental medicine and child neurology (02.01.2004)
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Published in Developmental medicine and child neurology (02.01.2004)
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