Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine
Hughes, Andrew T., Milan, Anna M., Shweihdi, Ella, Gallagher, James, Ranganath, Lakshminarayan
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Journal Article
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
Norman, Brendan P., Davison, Andrew S., Hughes, Juliette H., Sutherland, Hazel, Wilson, Peter JM, Berry, Neil G., Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Roberts, Norman B., Ranganath, Lakshminarayan R., Bou-Gharios, George, Gallagher, James A.
Published in Genes & diseases (01.07.2022)
Published in Genes & diseases (01.07.2022)
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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
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria
Norman, Brendan P, Davison, Andrew S, Hickton, Bryony, Ross, Gordon A, Milan, Anna M, Hughes, Andrew T, Wilson, Peter J. M, Sutherland, Hazel, Hughes, Juliette H, Roberts, Norman B, Bou-Gharios, George, Gallagher, James A, Ranganath, Lakshminarayan R
Published in Metabolites (29.09.2022)
Published in Metabolites (29.09.2022)
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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
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
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment
Ranganath, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Dutton, John J, Fitzgerald, Richard, Briggs, Michael C, Bygott, Helen, Psarelli, Eftychia E, Cox, Trevor F, Gallagher, James A, Jarvis, Jonathan C, van Kan, Christa, Hall, Anthony K, Laan, Dinny, Olsson, Birgitta, Szamosi, Johan, Rudebeck, Mattias, Kullenberg, Torbjörn, Cronlund, Arvid, Svensson, Lennart, Junestrand, Carin, Ayoob, Hana, Timmis, Oliver G, Sireau, Nicolas, Le Quan Sang, Kim-Hanh, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Nemethova, Martina, Zatkova, Andrea, McCaffrey, Judith, Christensen, Peter, Ross, Gordon, Imrich, Richard, Rovensky, Jozef
Published in Annals of the rheumatic diseases (01.02.2016)
Published in Annals of the rheumatic diseases (01.02.2016)
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Journal Article
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria
Hughes, Juliette H, Liu, Ke, Plagge, Antonius, Wilson, Peter J M, Sutherland, Hazel, Norman, Brendan P, Hughes, Andrew T, Keenan, Craig M, Milan, Anna M, Sakai, Takao, Ranganath, Lakshminarayan R, Gallagher, James A, Bou-Gharios, George
Published in Human molecular genetics (01.12.2019)
Published in Human molecular genetics (01.12.2019)
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Journal Article
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria
Norman, Brendan P, Davison, Andrew S, Ross, Gordon A, Milan, Anna M, Hughes, Andrew T, Sutherland, Hazel, Jarvis, Jonathan C, Roberts, Norman B, Gallagher, James A, Ranganath, Lakshminarayan R
Published in Clinical chemistry (Baltimore, Md.) (01.04.2019)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2019)
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Journal Article
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
Hughes, Juliette H., Wilson, Peter J. M., Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Bou‐Gharios, George, Ranganath, Lakshminarayan R., Gallagher, James A.
Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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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
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry
Hughes, Andrew T, Milan, Anna M, Davison, Andrew S, Christensen, Peter, Ross, Gordon, Gallagher, James A, Dutton, John J, Ranganath, Lakshminarayan R
Published in Annals of clinical biochemistry (01.09.2015)
Published in Annals of clinical biochemistry (01.09.2015)
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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
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria
Olsson, Birgitta, Cox, Trevor F, Psarelli, Eftychia E, Szamosi, Johan, Hughes, Andrew T, Milan, Anna M, Hall, Anthony K, Rovensky, Jozef, Ranganath, Lakshminarayan R
Published in JIMD Reports, Volume 24 (01.01.2015)
Published in JIMD Reports, Volume 24 (01.01.2015)
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