Zobrazeno 1 - 10 of 115 pro vyhledávání: '"Ashok Vellodi"'
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Akademický článek
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease
Autor: Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited def
Externí odkaz: https://doaj.org/article/87856b3cd87144b293aea32047560137
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The definition of neuronopathic Gaucher disease
Autor: Arndt Rolfs, Aimee Donald, Magy Abdelwahab, Tama Dinur, Elin Haf Davies, Michael Wajnrajch, David Arkadir, Ashok Vellodi, Uma Ramaswami, Ellen Sidransky, Tanya Collin-Histed, Aya Narita, Ozlem Goker-Alpan, Elena Lukina, Eugen Mengel, Shoshana Revel-Vilk, Jeff Szer, Raphael Schiffmann, Ari Zimran, Han-Wook Yoo, Jeff Sevigny
Publikováno v: Journal of Inherited Metabolic Disease
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bd364b72642f089d1003d656ac383f
https://pubmed.ncbi.nlm.nih.gov/32242941
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4
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
Autor: J. Fletcher, Suresh Vijay, Ashok Vellodi, Michael Champion, James Davison, Saikat Santra, Alexander Broomfield, Stephanie Grunewald, N. Finnegan, Matthew Fenton, Simon Jones, C. Stewart, Lara Abulhoul, Maureen Cleary, Anupam Chakrapani, A. Chikermane, Clare E. Beesley, K. Harvey, E. Cullen
Publikováno v: Europe PubMed Central
Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal treatment centres in the UK.A retrospective
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f578438095fe1a4aa4366369f7d54e
https://doi.org/10.1007/s10545-015-9898-5
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Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
Autor: Ashok Vellodi, Simon Jones, David A.H. Whiteman, Roberto Giugliani, Nancy J. Mendelsohn, Suresh Vijayaraghavan, Paul Harmatz, Arian Pano, Christian J. Hendriksz, Yongchang Qiu
Publikováno v: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 2-7 (2017)
Molecular Genetics and Metabolism Reports
ObjectivesThis 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45746b29d58d144244ca50b4722d58e8
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6
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis☆
Autor: Manuela Oppo, Cristina Sobacchi, Andrea Superti-Furga, Paolo Vezzoni, Alessandro Puddu, Jamal Raza, Ashok Vellodi, M. Valentini, Isabel Llano-Rivas, Alessandra Pangrazio, Blanca Gener, Irum Atta, Luca Zammataro, Anna Villa
Publikováno v: Bone
Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermedi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd28c0dc1476a870d5a446a87d963459
http://europepmc.org/articles/PMC3885796
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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
Autor: Gregory A. Grabowski, Julie L. Batista, Pramod K. Mistry, Ashok Vellodi, Edwin H. Kolodny, Amal El-Beshlawy, Nadia Belmatoug, Anna Tylki-Szymańska, Gerald F. Cox
Publikováno v: Molecular Genetics and Metabolism.
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0cab8caff7ab922c71e6e1f22a9718c
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8
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
Autor: Carla E. M. Hollak, Ana Maria Martins, Rossella Parini, Karl Eugen Mengel, Barbara K. Burton, Norberto Guelbert, Shuan-Pei Lin, Celeste Decker, Ashok Vellodi, Simon Jones, Paul Harmatz, Christian J. Hendriksz, Nathalie Guffon, Roberto Giugliani, Peter Slasor, Vassili Valayannopoulos, John J. Mitchell
Publikováno v: Molecular genetics and metabolism, 109(1), 54-61. Academic Press Inc.
Objectives The objectives of this study are to quantify endurance and respiratory function and better characterize spectrum of symptoms and biochemical abnormalities in mucopolysaccharidosis IVA subjects. Methods MorCAP was a multicenter, multination
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19c50993beb3e90432f9dada1eedab37
https://doi.org/10.1016/j.ymgme.2013.01.021
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SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity
Autor: Paul J. Orchard, Canan Albayrak, Luigi D. Notarangelo, Uwe Kornak, Alessandra Pangrazio, Davut Albayrak, Ashok Vellodi, Elena Caldana, Claire Schlack, Lucia Susani, Gabriele Strauss, Ansgar Schulz, Andrea Sbardellati, Paolo Vezzoni, Nadia Lo Iacono, Jörn Sven Kühl, Olivier Vanakker, Cristina Sobacchi, Jamal Raza, Kimberly A. Kasow, Barbara De Moerloose, Anna Villa, Anders Fasth
Publikováno v: Journal of Bone and Mineral Research. 28:1041-1049
Notarangelo, Luigi D/0000-0002-8335-0262; De Moerloose, Barbara/0000-0002-2449-539X; Villa, Anna/0000-0003-4428-9013; Susani, Lucia/0000-0003-3368-2135; Fasth, Anders/0000-0002-0033-740X WOS: 000318024300010 PubMed: 23280965 Human Autosomal Recessive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01496615b9da5a9c6b8cd7f22ef29df0
https://doi.org/10.1002/jbmr.1849
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Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes
Autor: Ida Berglin Enquist, Atul Mehta, Simon Heales, Simon N. Waddington, Derek Burke, Ashok Vellodi, Kailash P. Bhatia, Ahad A. Rahim, Stefan Karlsson
Publikováno v: Journal of Inherited Metabolic Disease. 36:869-872
Lysosomal glucocerebrosidase (GBA1) deficiency is causative for Gaucher disease. Not all individuals with GBA1 mutations develop neurological involvement raising the possibility that other factors may provide compensatory protection. One factor may b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6df54aa2eb22c74e95540f6e3adb0e
https://doi.org/10.1007/s10545-012-9561-3
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