Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Arunabha Ghosh"'
Autor:
María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, p
Externí odkaz:
https://doaj.org/article/b5c38565cdd44d16807759d4ee950516
Autor:
Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase. Impaired enzymatic activity leads to system
Externí odkaz:
https://doaj.org/article/7b225a2d284c4310a92d08a21c5707ae
Autor:
Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 24 (2024)
Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 t
Externí odkaz:
https://doaj.org/article/871fb498534349d08dd2216dbad7b8be
Autor:
Vaibhav Chaturvedi, Arunabha Ghosh, Amit Garg, Vidhee Avashia, Saritha Sudharmma Vishwanathan, Dipti Gupta, Nilesh Kumar Sinha, Chandra Bhushan, Srestha Banerjee, Divya Datt, Juhi Bansal, Minal Pathak, Subash Dhar, Ajeet Kumar Singh, Nayeem Khan, Rajani Ranjan Rashmi, Shalu Agrawal, Disha Agarwal, Anjali Singh, Thirumalai N C, Siddharth S Saxena, Vikram Vishal, Udayan Singh, Dharik S Mallapragada, Rajiv Kumar Chaturvedi, Aditya Valiathan Pillai, Vibhuti Garg, Santosh Singh, Kavya Hari, Nandakumar Janardhanan, Eric Zusman, Diptiranjan Mahapatra, Shuva Raha, Tulika Gupta, Sumit Prasad
Publikováno v:
Environmental Research Letters, Vol 19, Iss 11, p 112501 (2024)
The announcement of India’s 2070 net-zero target has demonstrated the power of a credible policy signal and changed the course of India’s climate debate. While the Government of India (GoI) has not specified whether this target refers to carbon-d
Externí odkaz:
https://doaj.org/article/f98260cdbade4631a12df6aa8035e376
Autor:
Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglyceride
Externí odkaz:
https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970
Autor:
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity. This very rar
Externí odkaz:
https://doaj.org/article/6bcf5e77cf6c40ca9598c34a2bcd98d2
Autor:
Helen Parker, Stuart M Ellison, Rebecca J Holley, Claire O'Leary, Aiyin Liao, Jalal Asadi, Emily Glover, Arunabha Ghosh, Simon Jones, Fiona L Wilkinson, David Brough, Emmanuel Pinteaux, Hervé Boutin, Brian W Bigger
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 3, Pp 1-19 (2020)
Abstract Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain. Patients develop behavioural disturbances and cognitive decline, a possible consequenc
Externí odkaz:
https://doaj.org/article/860e4ff997044c5bbd042e03d9871bf4
Autor:
Arunabha Ghosh, Aiyin Liao, Claire O’Leary, Jean Mercer, Karen Tylee, Anu Goenka, Rebecca Holley, Simon A. Jones, Brian W. Bigger
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 321-333 (2019)
Enzyme replacement therapy with laronidase is an established treatment for Mucopolysaccharidosis type I (MPS I), but its efficacy may be limited by the development of anti-drug antibodies, which inhibit cellular uptake of the enzyme. In a related dis
Externí odkaz:
https://doaj.org/article/d5c701be64524d9f9189e7ff9e967ff6
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss Suppl 1 (2021)
Externí odkaz:
https://doaj.org/article/b5a93ff131164e0eb28d7b5f8212e237
Autor:
Prerna Singh Bindra, Chirag Gajjar, Arunabha Ghosh, Manoj Kumar, Crispino Lobo, Digangana Mukherjee, Pradeep Nair, Shannon Olsson, Nitin Pandit, Tina Patrao, Uma Ramakrishnan, Usha Ramanathan, Nimish Shah, Priya Shyamsundar, Prashanth N. Srinivas
Publikováno v:
Ecology, Economy and Society – The INSEE Journal, Vol 3, Iss 2 (2020)
Externí odkaz:
https://doaj.org/article/2ecba2e4508c4689a5b76ebea61ad82e