The definition of neuronopathic Gaucher disease
Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Randomized, controlled trial of miglustat in Gaucher's disease type 3
Schiffmann, Raphael, FitzGibbon, Edmond J., Harris, Chris, DeVile, Catherine, Davies, Elin H., Abel, Larry, Van Schaik, Ivo N., Benko, William S., Timmons, Margaret, Ries, Markus, Vellodi, Ashok
Published in Annals of neurology (01.11.2008)
Published in Annals of neurology (01.11.2008)
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Journal Article
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease
Donald, Aimee, Björkvall, Cecilia Kämpe, Vellodi, Ashok, Cox, Timothy M, Hughes, Derralyn, Jones, Simon A, Wynn, Robert, Machaczka, Maciej
Published in Orphanet journal of rare diseases (18.06.2022)
Published in Orphanet journal of rare diseases (18.06.2022)
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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published in Orphanet journal of rare diseases (10.08.2011)
Published in Orphanet journal of rare diseases (10.08.2011)
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Journal Article
Conference Proceeding
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Tylki-Szymańska, Anna, Vellodi, Ashok, El-Beshlawy, Amal, Cole, J. Alexander, Kolodny, Edwin
Published in Journal of inherited metabolic disease (01.08.2010)
Published in Journal of inherited metabolic disease (01.08.2010)
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Journal Article
Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey
Muenzer, Joseph, Beck, Michael, Giugliani, Roberto, Suzuki, Yasuyuki, Tylki-Szymanska, Anna, Valayannopoulos, Vassili, Vellodi, Ashok, Wraith, James E.
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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Journal Article
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina
Published in Bone (New York, N.Y.) (01.02.2014)
Published in Bone (New York, N.Y.) (01.02.2014)
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Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease
Wraith, J. Edmond, MB, ChB, Tylki-Szymanska, Anna, MD, PhD, Guffon, Nathalie, MD, PhD, Lien, Y. Howard, MD, PhD, Tsimaratos, Michel, MD, PhD, Vellodi, Ashok, MBBS, Germain, Dominique P., MD, PhD
Published in The Journal of pediatrics (01.04.2008)
Published in The Journal of pediatrics (01.04.2008)
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Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
Burke, Derek G., Rahim, Ahad A., Waddington, Simon N., Karlsson, Stefan, Enquist, Ida, Bhatia, Kailash, Mehta, Atul, Vellodi, Ashok, Heales, Simon
Published in Journal of inherited metabolic disease (01.09.2013)
Published in Journal of inherited metabolic disease (01.09.2013)
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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
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease
D'Amore, Simona, Sano, Hiroshige, Chappell, Daniel David George, Chiarugi, Davide, Baker, Olivia, Page, Kathleen, Ramaswami, Uma, Johannesdottir, Fjola, Cox, Timothy M, Deegan, Patrick, Poole, Kenneth E
Published in Radiology (01.04.2023)
Published in Radiology (01.04.2023)
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The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
Harmatz, Paul, Mengel, Karl Eugen, Giugliani, Roberto, Valayannopoulos, Vassili, Lin, Shuan-Pei, Parini, Rossella, Guffon, Nathalie, Burton, Barbara K., Hendriksz, Christian J., Mitchell, John, Martins, Ana, Jones, Simon, Guelbert, Norberto, Vellodi, Ashok, Hollak, Carla, Slasor, Peter, Decker, Celeste
Published in Molecular genetics and metabolism (01.05.2013)
Published in Molecular genetics and metabolism (01.05.2013)
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Journal Article
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
Mistry, Pramod K., Deegan, Patrick, Vellodi, Ashok, Cole, J. Alexander, Yeh, Michael, Weinreb, Neal J.
Published in British journal of haematology (01.11.2009)
Published in British journal of haematology (01.11.2009)
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Journal Article
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
El-Beshlawy, Amal, Tylki-Szymanska, Anna, Vellodi, Ashok, Belmatoug, Nadia, Grabowski, Gregory A, Kolodny, Edwin H, Batista, Julie L, Cox, Gerald F, Mistry, Pramod K
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
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Journal Article
Progression of feeding skills in infantile Pompe disease - the GOSH experience
Lozano, Sonia, Vellodi, Ashok, Broomfield, Alexander
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Chakrapani, Anupam, Vellodi, Ashok, Robinson, Peter, Jones, Simon, Wraith, J. E
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Journal Article
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A ( RANK) Mutations
Guerrini, Matteo M., Sobacchi, Cristina, Cassani, Barbara, Abinun, Mario, Kilic, Sara S., Pangrazio, Alessandra, Moratto, Daniele, Mazzolari, Evelina, Clayton-Smith, Jill, Orchard, Paul, Coxon, Fraser P., Helfrich, Miep H., Crockett, Julie C., Mellis, David, Vellodi, Ashok, Tezcan, Ilhan, Notarangelo, Luigi D., Rogers, Michael J., Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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Journal Article
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome
Muenzer, Joseph, Beck, Michael, Eng, Christine M., Giugliani, Roberto, Harmatz, Paul, Martin, Rick, Ramaswami, Uma, Vellodi, Ashok, Wraith, James E., Cleary, Maureen, Gucsavas-Calikoglu, Muge, Puga, Ana Cristina, Shinawi, Marwan, Ulbrich, Birgit, Vijayaraghavan, Suresh, Wendt, Susanne, Conway, Anne Marie, Rossi, Alexandra, Whiteman, David A.H., Kimura, Alan
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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