First decade anniversary of the United Kingdom National Alkaptonuria Centre
Khedr, Milad, Sireau, Nick, Bou‐Gharios, George, Gallagher, Jim A., Ranganath, Lakshminarayan R.
Published in JIMD reports (01.03.2023)
Published in JIMD reports (01.03.2023)
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Journal Article
Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature
Ranganath, Lakshminarayan, Khedr, Milad, Evans, Leanne A., Bygott, Helen, Luangrath, Emily, West, Elizabeth
Published in JIMD reports (01.09.2021)
Published in JIMD reports (01.09.2021)
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Journal Article
Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients
Ahmad, Mohammad S. Z., Ahmed, Mahmoud, Khedr, Milad, Borgia, Alfredo, Madden, Andrea, Ranganath, Lakshminarayan R., Kaye, Stephen
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Journal Article
Increased prevalence of Parkinson's disease in alkaptonuria
Ranganath, Lakshminarayan, Khedr, Milad, Milan, Anna M., Davison, Andrew S., Norman, Brendan P., Janssen, Mirian C. H., Lock, Edward, Bou‐Gharios, George, Gallagher, James A.
Published in JIMD reports (01.07.2023)
Published in JIMD reports (01.07.2023)
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Journal Article
Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment
Ranganath, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Davison, Andrew S, Khedr, Milad, Imrich, Richard, Rudebeck, Mattias, Olsson, Birgitta, Norman, Brendan P, Bou-Gharios, George, Gallagher, James A
Published in Metabolites (01.08.2022)
Published in Metabolites (01.08.2022)
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Journal Article
Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria
Ranganath, Lakshminarayan R, Hughes, Andrew T, Davison, Andrew S, Khedr, Milad, Imrich, Richard, Rudebeck, Mattias, Olsson, Birgitta, Norman, Brendan P, Bou-Gharios, George, Gallagher, James A, Milan, Anna M
Published in Metabolites (29.09.2022)
Published in Metabolites (29.09.2022)
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Journal Article
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Norman, Brendan P., Alsbou, Mohammed, Imrich, Richard, Gornall, Matthew, Sireau, Nicolas, Gallagher, James A., Jackson, Richard
Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
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Journal Article
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma
Judd, Shirley, Khedr, Milad, Milan, Anna M., Davison, Andrew S., Hughes, Andrew T., Needham, Alexander, Psarelli, Eftychia E., Shenkin, Alan, Ranganath, Lakshiminaryan R.
Published in JIMD reports (01.05.2020)
Published in JIMD reports (01.05.2020)
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Journal Article
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
Imrich, Richard, Sedláková, Jana, Úlehlová, Mária, Gornall, Matthew, Jackson, Richard, Olsson, Birgitta, Rudebeck, Mattias, Gallagher, James, Lukáčová, Oľga, Mlynáriková, Vanda, Stančík, Roman, Vrtíková, Eva, Záňová, Elizabeth, Zaťková, Andrea, Arnoux, Jean-Baptiste, Rovenský, Jozef, Luangrath, Emily, Bygott, Helen, Khedr, Milad, Ranganath, Lakshminarayan R
Published in Rheumatic & musculoskeletal diseases open (01.10.2022)
Published in Rheumatic & musculoskeletal diseases open (01.10.2022)
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Journal Article
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Wilson, Peter J., Dillon, Jane P., West, Elizabeth, Gallagher, James A.
Published in JIMD reports (01.09.2020)
Published in JIMD reports (01.09.2020)
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Journal Article
Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC‐QTOF‐MS
Davison, Andrew S., Norman, Brendan P., Ross, Gordon A., Hughes, Andrew T., Khedr, Milad, Milan, Anna M., Gallagher, James A., Ranganath, Lakshminarayan R.
Published in JIMD reports (01.07.2019)
Published in JIMD reports (01.07.2019)
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Journal Article
The Movement Deviation Profile gives a speed-matched measure of gait deviation
Beesley, Jacob, Shepherd, Hannah, Robinson, Mark, Greaves, Henrike, Khedr, Milad, Barton, Gabor
Published in Gait & posture (01.09.2024)
Published in Gait & posture (01.09.2024)
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Journal Article
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients
Ranganath, Lakshminarayan R., Khedr, Milad, Vinjamuri, Sobhan, Gallagher, James A.
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease
Pos, Zuzana, Khedr, Milad, Radvanszky, Jan, Penesova, Adela, Hekel, Rastislav, Szemes, Tomas, Ranganath, Lakshminarayan Rao, Zatkova, Andrea
Published in Bratislavské lékarské listy (2023)
Published in Bratislavské lékarské listy (2023)
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Journal Article
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
Ranganath, Lakshminarayan R, Psarelli, Eftychia Eirini, Arnoux, Jean-Baptiste, Braconi, Daniela, Briggs, Michael, Bröijersén, Anders, Loftus, Nadia, Bygott, Helen, Cox, Trevor F, Davison, Andrew S, Dillon, Jane P, Fisher, Michael, FitzGerald, Richard, Genovese, Federica, Glasova, Helena, Hall, Anthony K, Hughes, Andrew T, Hughes, Juliette H, Imrich, Richard, Jarvis, Jonathan C, Khedr, Milad, Laan, Dinny, Le Quan Sang, Kim-Hanh, Luangrath, Emily, Lukáčová, Ol'ga, Milan, Anna M, Mistry, Alpesh, Mlynáriková, Vanda, Norman, Brendan P, Olsson, Birgitta, Rhodes, Nicholas P, Rovenský, Jozef, Rudebeck, Mattias, Santucci, Annalisa, Shweihdi, Ella, Scott, Ciarán, Sedláková, Jana, Sireau, Nicolas, Stančík, Roman, Szamosi, Johan, Taylor, Sophie, van Kan, Christa, Vinjamuri, Sobhan, Vrtíková, Eva, Webb, Chris, West, Elizabeth, Záňová, Elizabeth, Zatkova, Andrea, Gallagher, James A
Published in The lancet. Diabetes & endocrinology (01.09.2020)
Published in The lancet. Diabetes & endocrinology (01.09.2020)
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Journal Article
Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network
Catapano, Alberico L., Tokgözoğlu, Lale, Banach, Maciej, Gazzotti, Marta, Olmastroni, Elena, Casula, Manuela, Ray, Kausik K.
Published in Atherosclerosis (01.04.2023)
Published in Atherosclerosis (01.04.2023)
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Journal Article
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool
Milan, Anna M, Hughes, Andrew T, Davison, Andrew S, Devine, Jean, Usher, Jeannette, Curtis, Sarah, Khedr, Milad, Gallagher, James A, Ranganath, Lakshminarayan R
Published in Annals of clinical biochemistry (01.05.2017)
Published in Annals of clinical biochemistry (01.05.2017)
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Journal Article
Nitisinone causes acquired tyrosinosis in alkaptonuria
Khedr, Milad, Cooper, Maggie S., Hughes, Andrew T., Milan, Anna M., Davison, Andrew S., Norman, Brendan P., Sutherland, Hazel, Jarvis, Jonathan C., Fitzgerald, Richard, Markinson, Louise, Psarelli, Eftychia‐Eirini, Ghane, Parisa, Deutz, Nicolaas E. P., Gallagher, James A., Ranganath, Lakshminarayan R.
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Journal Article
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Shweihdi, Ella, Norman, Brendan P., Hughes, Juliette H., Bygott, Helen, Luangrath, Emily, Fitzgerald, Richard, Psarelli, Eftychia E., Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean‐Baptiste, Le Quan Sang, Kim‐Hanh, Jarvis, Jonathan C., Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stančík, Roman, Imrich, Richard, Rhodes, Nicholas P., Gallagher, James A.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Journal Article