Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Anthony K. Hall"'
Autor:
Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau, Lakshminarayan R. Ranganath
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract New opportunities have arisen for development of therapies for rare diseases with the increased focus and progress in the field. However, standardised framework integrating individual initiatives has not been formed. We present lessons learn
Externí odkaz:
https://doaj.org/article/641b41904e8242b6a36d17770ae9ab8c
Autor:
James A. Gallagher, Michael E. Briggs, Elizabeth Záňová, Birgitta Olsson, Ciarán Scott, Mattias Rudebeck, Sophie Taylor, Nadia Loftus, Nicolas Sireau, Brendan P. Norman, Roman Stančík, Jozef Rovenský, Alpesh Mistry, Andrew S. Davison, Elizabeth West, Richard Imrich, Nick Rhodes, Michael Fisher, Kim Hanh Le Quan Sang, Christa van Kan, Juliette H. Hughes, Emily Luangrath, J.P. Dillon, Jonathan C. Jarvis, Ol'ga Lukáčová, Eftychia E. Psarelli, Dinny Laan, Anthony K Hall, Trevor Cox, Andrea Zatkova, Anna M. Milan, Eva Vrtíková, Richard Fitzgerald, Jean Baptiste Arnoux, Helena Glasova, Jana Sedláková, Johan Szamosi, Lakshminarayan R. Ranganath, Daniela Braconi, Federica Genovese, Chris Webb, Milad Khedr, Anders Bröijersén, Vanda Mlynáriková, Helen Bygott, Annalisa Santucci, Sobhan Vinjamuri, Ella Shweihdi, Andrew T. Hughes
Publikováno v:
The Lancet Diabetes and Endocrinology
Background Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA). No HGA-lowering therapy has been approved to date. The aim of SONIA 2 was to investigate the efficacy and safety of once-dai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3375e22d6a501121aedc7298d351ee0f
https://pubmed.ncbi.nlm.nih.gov/32822600
https://pubmed.ncbi.nlm.nih.gov/32822600
Autor:
Jaime D. Blais, Andrew Makin, Anthony K. Hall, Cynthia Willey, Frank S. Czerwiec, Holly B. Krasa
Publikováno v:
Nephrology Dialysis Transplantation
Background Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease, but estimates of its prevalence vary by >10-fold. The objective of this study was to examine the public health impact of ADPKD in the Europ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f039123e46f5b16a89bec6ee1335b7f4
http://europepmc.org/articles/PMC5837385
http://europepmc.org/articles/PMC5837385
Publikováno v:
Expert Opinion on Orphan Drugs. 2:1175-1179
There is a large unmet need for helping rare disease patient groups and Findacure aims to empower these groups to become effective campaigners for change. Through its scientific meetings, Findacure also aims to gain the support of the scientific comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12182a7164e1cbd9bf835eabf9234a81
https://doi.org/10.1517/21678707.2014.974552
https://doi.org/10.1517/21678707.2014.974552
Autor:
Anthony K Hall, Marilyn R Carlson
Publikováno v:
Intractable & Rare Diseases Research. 3:1-7
Orphan drug legislation has been introduced in a number of countries in order to stimulate the development of treatments for rare diseases by introducing commercial incentives for companies wishing to undertake that development. In order to navigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20debbbe869c2c8b9e11c34469ed2ae5
https://doi.org/10.5582/irdr.3.1
https://doi.org/10.5582/irdr.3.1
Autor:
Anthony K Hall, Elizabeth Ludington
Publikováno v:
Expert Opinion on Orphan Drugs. 1:847-850
Clinical trials (programs) for orphan indications present unique challenges for the drug developer. The fact that the disease is often poorly characterised and under-researched makes it difficult to define suitable clinical parameters; the paucity of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dca81009314cd891ba21e5fb36a72eae
https://doi.org/10.1517/21678707.2013.847786
https://doi.org/10.1517/21678707.2013.847786
Autor:
Nicolas Sireau, Anthony K Hall
Publikováno v:
Expert Opinion on Orphan Drugs. 1:511-514
Charging high prices for orphan drugs is unsustainable due to limited healthcare budgets. New models of orphan drug development are needed to help find treatments for the majority of rare diseases which have no treatment. This article discusses the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::88b680bcab1f0db71922f1d8f98c9b70
https://doi.org/10.1517/21678707.2013.812515
https://doi.org/10.1517/21678707.2013.812515
Autor:
Andrew T. Hughes, Eftychia E. Psarelli, Lakshminarayan R. Ranganath, Anna M. Milan, Anthony K Hall, Trevor Cox, Jozef Rovensky, Johan Szamosi, Birgitta Olsson
Publikováno v:
JIMD Reports ISBN: 9783662482261
Alkaptonuria (AKU) is a serious genetic disease due to a defect in tyrosine metabolism, leading to increased serum levels of homogentisic acid (HGA). Nitisinone decreases HGA in AKU, but the concentration-response relationship has not been previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491b473ecc7aebd1df794e72bcac2b5f
https://pubmed.ncbi.nlm.nih.gov/25772318
https://pubmed.ncbi.nlm.nih.gov/25772318
Autor:
Richard Imrich, Shruthi K Bharadwaj, Hana Ayoob, Nicolas Sireau, Birgitta Olsson, G. Biolcati, Tom L. Blundell, Lakshminarayan R. Ranganath, Rangan Srinivasaraghavan, Anthony K Hall, Andrea Zatkova, Oliver Timmis, Kim Hanh Le Quan Sang, Fiammetta Sorge, Ludevit Kadasi, Charles Marques Lourenço, Caterina Aurizi, Mohammed Alsbou, Douglas E. V. Pires, Ronen Spiegel, Jan Radvanszky, Martina Nemethova, Kanakasabapathi Ramadevi, Annalisa Santucci, Robert Aquaron, Lia Milucci, Jozef Rovensky, Alessandro Mannoni, Berardino Porfirio, Silvia Sestini, Federica Genovese, David B. Ascher, James A. Gallagher, Christa van Kan
Publikováno v:
European journal of human genetics : EJHG. 24(1)
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7059e86f4e9c2904f6be81afbf73d6b1
https://pubmed.ncbi.nlm.nih.gov/25804398
https://pubmed.ncbi.nlm.nih.gov/25804398
Autor:
Hana Ayoob, Judith McCaffrey, Andrea Zatkova, Christa van Kan, Carin Junestrand, Jonathan C. Jarvis, Andrew T. Hughes, Kim-Hanh Le Quan Sang, Helen Bygott, Gordon A. Ross, Lakshminarayan R. Ranganath, Richard Imrich, Anthony K Hall, Dinny Laan, Trevor Cox, Peter Christensen, Mattias Rudebeck, James A. Gallagher, Nicolas Sireau, Torbjörn Kullenberg, Lennart Svensson, Eftychia E. Psarelli, Birgitta Olsson, Daniela Braconi, Federica Genovese, Richard Fitzgerald, Oliver Timmis, Jozef Rovensky, Martina Nemethova, Anna M. Milan, Arvid Cronlund, Annalisa Santucci, Johan Szamosi, John Dutton, M. C. Briggs
Publikováno v:
Annals of the rheumatic diseases. 75(2)
Background Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU. Nitisinone decreases homogentisic acid (HGA) in AKU but the dose-response relatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5e2e660c114ce8968ef5993340f0aa
https://pubmed.ncbi.nlm.nih.gov/25475116
https://pubmed.ncbi.nlm.nih.gov/25475116