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Results for
""Alkaptonuria""[mesh_terms]

17 Results

Searching titles within these results

Dermoscopic and laser confocal features of an exogenous ochronosis case.

Maria M Constantin, Stefana Bucur, Daniela E Serban, Costin Caruntu, Olguta A Orzan, Traian Constantin

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia 2021;155(3):367-368

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Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.

Pelin Teke Kisa, Semra Eroglu Erkmen, Hilal Bahceci, Zumrut Arslan Gulten, Ayca Aydogan, Ozge Kamer Karalar Pekuz, Tuba Yuce Inel, Taylan Ozturk, Sezer Uysal, Nur Arslan

Annals of nutrition & metabolism 2022;78(1):48-60

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Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Jean-Baptiste Arnoux, Kim-Hanh Le Quan Sang, Anais Brassier, Coraline Grisel, Aude Servais, Julien Wippf, Sandrine Dubois, Nicolas Sireau, Chantal Job-Deslandre, Lakshminarayan Ranganath, Pascale de Lonlay

Journal of inherited metabolic disease 2016;38(5):791-6

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Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.

David B Ascher, Ottavia Spiga, Martina Sekelska, Douglas E V Pires, Andrea Bernini, Monica Tiezzi, Jana Kralovicova, Ivana Borovska, Andrea Soltysova, Birgitta Olsson, Silvia Galderisi, Vittoria Cicaloni, Lakshminarayan Ranganath, Annalisa Santucci, Andrea Zatkova

European journal of human genetics : EJHG 2020;27(6):888-902

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Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Hilary J Vernon, Irini Manoli

American journal of medical genetics. Part A 2022;185(11):3350-3358

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Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.

Hashim Talib Hashim, Ibrahim Ahmad Bhatti, Maleeha Saqib, Ibad Ur Rehman, Saman Amjed, Arsalan Ahmed Butt

Clinical medicine & research 2024;22(2):107-111

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Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review.

Tsvetelina Kostova, Zguro Batalov, Rositsa Karalilova, Anastas Batalov

Rheumatology international 2022;42(12):2277-2282

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Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design.

Nevin Öztekin, Gülfem S Balta, M Şerif Cansever

Biomedical chromatography : BMC 2018;32(7):e4216

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Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.

A M Milan, A T Hughes, A S Davison, M Khedr, J Rovensky, E E Psarelli, T F Cox, N P Rhodes, J A Gallagher, L R Ranganath

Scientific reports 2020;9(1):10024

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Renal and prostate stones composition in alkaptonuria: a case report.

Fleur Wolff, Ibrahim Biaou, Caroline Koopmansch, Marc Vanden Bossche, Agnieszka Pozdzik, Thierry Roumeguère, Frédéric Cotton

Clinical nephrology 2016;84(6):339-42

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Alkaptonuria in a 5-year-old boy in Iraq.

S H Al-Mefraji

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2008;14(3):745-6

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Alkaptonuria presenting with ochronotic spondyloarthropathy.

S Clark, R Al-Mahfoudh, N Buxton

British journal of neurosurgery 2009;22(6):805-7

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Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria.

Adriano Spreafico, Lia Millucci, Lorenzo Ghezzi, Michela Geminiani, Daniela Braconi, Loredana Amato, Federico Chellini, Bruno Frediani, Elena Moretti, Giulia Collodel, Giulia Bernardini, Annalisa Santucci

Rheumatology (Oxford, England) 2013;52(9):1667-73

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Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.

Laura Tinti, Adriano Spreafico, Daniela Braconi, Lia Millucci, Giulia Bernardini, Federico Chellini, Giovanni Cavallo, Enrico Selvi, Mauro Galeazzi, Roberto Marcolongo, James A Gallagher, Annalisa Santucci

Journal of cellular physiology 2010;225(1):84-91

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Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria.

S Judd, R Imrich, A M Milan, A T Hughes, A S Davison, M Khedr, L R Ranganath, B P Norman, H Bygott, E Luangrath, C Soulsby, B Olsson

Nutrients 2024;16(16):

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Results: 1 – 15 / 17

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Results for ""Alkaptonuria""[mesh_terms]

Dermoscopic and laser confocal features of an exogenous ochronosis case.

Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.

Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review.

Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design.

Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.

Renal and prostate stones composition in alkaptonuria: a case report.

Alkaptonuria in a 5-year-old boy in Iraq.

Alkaptonuria presenting with ochronotic spondyloarthropathy.

Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria.

Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.

Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria.

Results for
""Alkaptonuria""[mesh_terms]