Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ella Shweihdi"'
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 341-350 (2022)
Abstract Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine (TYR) metabolism which results in a deficiency of the enzyme homogentisate 1,2‐dioxygenase activity. Several studies have reported the metabolic changes in
Externí odkaz:
https://doaj.org/article/43deb695b8c7484688e2a6eb949ecf07
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