Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Helen Bygott"'
Autor:
Lakshminarayan Ranganath, Milad Khedr, Leanne A. Evans, Helen Bygott, Emily Luangrath, Elizabeth West
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 25-33 (2021)
Abstract Four patients, from three families, with alkaptonuria receiving 4‐hydroxyphenylpyruvate dioxygenase‐inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo. Three of the four patients were
Externí odkaz:
https://doaj.org/article/e236f4be8b7442af8ce0db1a911f8074
Autor:
Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath
Publikováno v:
RMD Open, Vol 8, Iss 2 (2022)
Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or
Externí odkaz:
https://doaj.org/article/7ad17879aed8418c859a209f23af4c38
Autor:
Leanne A. Evans, Elizabeth West, Lakshminarayan R. Ranganath, Milad Khedr, Helen Bygott, Emily Luangrath
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 25-33 (2021)
JIMD Reports
JIMD Reports
Four patients, from three families, with alkaptonuria receiving 4‐hydroxyphenylpyruvate dioxygenase‐inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo. Three of the four patients were receivin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305a487222364f14ae3a7e763331b993
https://doaj.org/article/e236f4be8b7442af8ce0db1a911f8074
https://doaj.org/article/e236f4be8b7442af8ce0db1a911f8074
Autor:
Richard Imrich, Jana Sedláková, Mária Úlehlová, Matthew Gornall, Richard Jackson, Birgitta Olsson, Mattias Rudebeck, James Gallagher, Oľga Lukáčová, Vanda Mlynáriková, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Andrea Zaťková, Jean-Baptiste Arnoux, Jozef Rovenský, Emily Luangrath, Helen Bygott, Milad Khedr, Lakshminarayan R Ranganath
Publikováno v:
RMD Open. 8:e002422
ObjectivesOchronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.MethodsPatients with AKU aged 25 years or o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b15019bf2a6b82f19f4c19ecb840450
https://doi.org/10.1136/rmdopen-2022-002422
https://doi.org/10.1136/rmdopen-2022-002422
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:
Andrea Zatkova, Helen Bygott, Richard Fitzgerald, Daniela Braconi, Andrew T. Hughes, Nick Rhodes, Richard Imrich, Federica Genovese, Milad Khedr, Anna M. Milan, Roman Stančík, Helena Glasova, James A. Gallagher, Louise Mankowitz, Lakshminarayan R. Ranganath, Andrew S. Davison, Annalisa Santucci, Ella Shweihdi, Birgitta Olsson, Emily Luangrath, Christa van Kan, Jonathan C. Jarvis, Jean Baptiste Arnoux, Brendan P. Norman, Juliette H. Hughes, Dinny Laan, Mattias Rudebeck, Nicolas Sireau, Eftychia E. Psarelli, Kim Hanh Le Quan Sang
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
The clinical effects of alkaptonuria (AKU) are delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or processed in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6ba192486a64d0279c0502e494bc64
https://pubmed.ncbi.nlm.nih.gov/31609457
https://pubmed.ncbi.nlm.nih.gov/31609457
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