Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Milad Khedr"'
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:
Mohammad S. Z. Ahmad, Mahmoud Ahmed, Milad Khedr, Alfredo Borgia, Andrea Madden, Lakshminarayan R. Ranganath, Stephen Kaye
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 351-360 (2022)
Abstract Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012. This study evaluated the serendipitous observation of cataract in a large c
Externí odkaz:
https://doaj.org/article/5563459352854660ab7ca6801dd42509
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
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 212-213 (2023)
Externí odkaz:
https://doaj.org/article/d92e3ea410b746ee987fe67f5cd585e9
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:
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:
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