Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Anna M. Milan"'
Autor:
Lakshminarayan Ranganath, Milad Khedr, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Mirian C. H. Janssen, Edward Lock, George Bou‐Gharios, James A. Gallagher
Publikováno v:
JIMD Reports, Vol 64, Iss 4, Pp 282-292 (2023)
Abstract Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD). Two of the NAC patients developed PD before receiving nit
Externí odkaz:
https://doaj.org/article/2188354befc3468c8d09344499520849
Autor:
Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher
Publikováno v:
Genes and Diseases, Vol 9, Iss 4, Pp 1129-1142 (2022)
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the
Externí odkaz:
https://doaj.org/article/957bdcfaa6bb4d9d97d9bf338e2f3358
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:
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Brendan P. Norman, Mohammed Alsbou, Richard Imrich, Matthew Gornall, Nicolas Sireau, James A. Gallagher, Richard Jackson
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 80-92 (2022)
Abstract Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria
Externí odkaz:
https://doaj.org/article/5d36e4859dd84f01a498e92ebccc7fb8
Autor:
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Andrew S. Davison, Peter J. Wilson, Jane P. Dillon, Elizabeth West, James A. Gallagher
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 75-87 (2020)
Abstract Background Increased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression. Methods Photographs of the eyes and ears were acquired from patients atten
Externí odkaz:
https://doaj.org/article/39244242ead74ac28b7788233f948751
Autor:
Shirley Judd, Milad Khedr, Anna M. Milan, Andrew S. Davison, Andrew T. Hughes, Alexander Needham, Eftychia E. Psarelli, Alan Shenkin, Lakshiminaryan R. Ranganath
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 45-60 (2020)
Abstract Background Alkaptonuria (AKU) is a disorder of tyrosine/protein metabolism leading to accumulation of homogentisic acid. Clinical management historically recommended reducing dietary protein intake, especially in childhood, which has since b
Externí odkaz:
https://doaj.org/article/0210a2ac4581490d86f39896d02a77f4
Autor:
Lakshminarayan R. Ranganath, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan
Publikováno v:
Metabolites, Vol 12, Iss 10, p 920 (2022)
Changes in the phenylalanine (PHE)/tyrosine (TYR) pathway metabolites before and during homogentisic acid (HGA)-lowering by nitisinone in the Suitability of Nitisinone in Alkaptonuria (AKU) 2 (SONIA 2) study enabled the magnitude of the flux in the p
Externí odkaz:
https://doaj.org/article/947ce8c34d8640b08aeeb64dfffe4de9
Autor:
Brendan P. Norman, Andrew S. Davison, Bryony Hickton, Gordon A. Ross, Anna M. Milan, Andrew T. Hughes, Peter J. M. Wilson, Hazel Sutherland, Juliette H. Hughes, Norman B. Roberts, George Bou-Gharios, James A. Gallagher, Lakshminarayan R. Ranganath
Publikováno v:
Metabolites, Vol 12, Iss 10, p 927 (2022)
Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease. The aim of this research was
Externí odkaz:
https://doaj.org/article/e39b7f67a9a743138b22b940540aaf21
Autor:
Andrew S. Davison, Brendan P. Norman, Gordon A. Ross, Andrew T. Hughes, Milad Khedr, Anna M. Milan, James A. Gallagher, Lakshminarayan R. Ranganath
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 67-74 (2019)
Abstract Background The homogentisic acid‐lowering therapy nitisinone is being evaluated for the treatment of alkaptonuria (AKU) at the National Centre for AKU. Beyond hypertyrosinemia, the wider metabolic consequences of its use are largely unknow
Externí odkaz:
https://doaj.org/article/39bd209c2e2645289ef1dd527e8f6619
Autor:
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher
Publikováno v:
Metabolites, Vol 12, Iss 8, p 772 (2022)
Nitisinone (NIT) causes tyrosinaemia and corneal keratopathy (KP), especially in men. However, the adaptation within the phenylalanine (PHE)/tyrosine (TYR) catabolic pathway during KP is not understood. The objective of this study is to assess potent
Externí odkaz:
https://doaj.org/article/1944aa1942db460ba4860e964f9668c1