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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
Názov 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 Autor Ranganath Lakshminarayan R. Spoluautori 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. Kan Christa van Hall Anthony K. Laan Dinny Olsson Birgitta Szamosi Johan Rudebeck Mattias Kullenberg Torbjorn Cronlund Arvid Svensson Lennart Junestrand Carin Ayoob Hana Timmis Oliver G. Sireau Nicholas Le Quan Sang Kim - Hanh Genovese Federica Braconi Daniela Santucci Annalisa Némethová Martina 1986- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID McCaffrey Judith Christensen Peter Ross Gordon Imrich Richard SAVUKTRA ; SAVBIOMED - Ústav klinického a translačného výskumu BMC SAV ORCID Rovenský Jozef Zdroj.dok. Annals of the Rheumatic Diseases. Vol. 75, iss. 2 (2016), pp. 362-367 Jazyk dok. eng - angličtina Krajina GB - Veľká Británia Poznámky DevelopAKUre, n. 304985 Druh dok. rozpis článkov z periodík (rbx) Ohlasy MISTRY, J. B. - JACKSON, D. J. - BUKHARI, M. - TAYLOR, A. M. Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. In CLINICAL RHEUMATOLOGY. ISSN 0770-3198, 2016, vol. 35, no. 2, pp. 513-516. MISTRY, J. B. - JACKSON, D. J. - BUKHARI, M. - TAYLOR, A. M. A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. In CLINICAL RHEUMATOLOGY. ISSN 0770-3198, 2016, vol. 35, no. 7, p. 1849-1856. MUTTARDI, Kayria - RUBIN, Alan - BROWN, Victoria L. A Patient With Blue Ears. In JAMA DERMATOLOGY. ISSN 2168-6068, 2016, vol. 152, no. 4, p. 465-466. ALSBOU, M. - TARAWNEH, K. - ALNAWAISEH, I. - ALMAJALI, D. Effects of low protein diet and Vitamin C on urinary homogentisic acid concentrations in alkaptonuria. In Rheumatologia. ISSN 12101931, 2016-01-01, 30, 2, pp. 51-54. AKTUGLU-ZEYBEK, A. Cigdem - ZUBARIOGLU, Tanyel. Nitisinone: A review. In Orphan Drugs: Research and Reviews, 2017-01-31, 7, pp. 25-35. GANESH, Anuradha - AL-MURSHEDI, Fathiya - AL-ZUHAIBI, Sana - AL-THIHLI, Khalid. Ocular manifestations of inborn errors of metabolism. In The Eye in Pediatric Systemic Disease, 2017-01-01, pp. 359-460. TAYLOR, Adam M. - VERCRUYSSE, Koen P. Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria. In JIMD REPORTS, VOL 35. ISSN 2192-8304, 2017, vol., no., pp. 79-85. MUCKE, Hermann A. M. Patent highlights August-September 2017. In PHARMACEUTICAL PATENT ANALYST. ISSN 2046-8954, 2018, vol. 7, no. 1, pp. 7-14. BRUNETTI, Giacomina - TUMMOLO, Albina - D'AMATO, Gabriele - GAETA, Alberto - ORTOLANI, Federica - PIACENTE, Laura - GIORDANO, Paola - COLUCCI, Silvia - GRANO, Maria - PAPADIA, Francesco - FAIENZA, Maria F. Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria. In AMERICAN JOURNAL OF PATHOLOGY. ISSN 0002-9440, 2018, vol. 188, no. 4, pp. 1059-1068. OZTEKIN, Nevin - BALTA, Gulfem S. - CANSEVER, M. Serif. Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design. In BIOMEDICAL CHROMATOGRAPHY. ISSN 0269-3879, 2018, vol. 32, no. 7, pp. WHITE, Andrew - TCHAN, Michel C. Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion. In JIMD REPORTS, VOL 40. ISSN 2192-8304, 2018, vol. 40, no., pp. 7-9. LANGEVELD, M. - HOLLAK, C. E. M. Bone health in patients with inborn errors of metabolism. In REVIEWS IN ENDOCRINE & METABOLIC DISORDERS. ISSN 1389-9155, 2018, vol. 19, no. 1, pp. 81-92. VAN GINKEL, Willem G. - RODENBURG, Iris L. - HARDING, Cary O. - HOLLAK, Carla E. M. - HEINER-FOKKEMA, M. Rebecca - VAN SPRONSEN, Francjan J. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1. In PEDIATRIC DRUGS. ISSN 1174-5878, 2019, vol. 21, no. 6, pp. 413-426. YUE, Wyatt W. - MACKINNON, Sabrina - BEZERRA, Gustavo A. Substrate reduction therapy for inborn errors of metabolism. In EMERGING TOPICS IN LIFE SCIENCES. ISSN 2397-8554, 2019, vol. 3, no. 1, pp. 63-73. ASHTON, Mark D. - HARDY, Sohn G. Progress in Active Ingredient Formulations Towards smart stimuli-responsive formulations. In JOHNSON MATTHEY TECHNOLOGY REVIEW. ISSN 2056-5135, 2019, vol. 63, no. 3, pp. 211-225. NEUCKERMANS, Jessie - MERTENS, Alan - DE WIN, Dinja - SCHWANEBERG, Ulrich - DE KOCK, Joery. A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2019, vol. 9, no., pp. TAYLOR, Adam M. - SHEPHERD, Laura. The potential of nitisinone for the treatment of alkaptonuria. In EXPERT OPINION ON ORPHAN DRUGS. ISSN 2167-8707, 2019, vol. 7, no. 10, pp. 435-441. SLOBODA, Natacha - WIEDEMANN, Arnaud - MERTEN, Marc - ALQHATANI, Amehr - JEANNESSON, Elise - BLUM, Alain - HENN-MENETRE, Sophie - GUEANT, Jean-Louis - RENARD, Emeline - FEILLET, Francois. Efficacy of low dose nitisinone in the management of alkaptonuria. In MOLECULAR GENETICS AND METABOLISM. ISSN 1096-7192, 2019, vol. 127, no. 3, pp. 184-190. WU, Katherine - BAUER, Erin - MYUNG, Gihyun - FANG, Meika A. Musculoskeletal manifestations of alkaptonuria: A case report and literature review. In EUROPEAN JOURNAL OF RHEUMATOLOGY. ISSN 2147-9720, 2019, vol. 6, no. 2, pp. 98-101. CICALONI, Vittoria - TREZZA, Alfonso - PETTINI, Francesco - SPIGA, Ottavia. Applications of In Silico Methods for Design and Development of Drugs Targeting Protein-Protein Interactions. In CURRENT TOPICS IN MEDICINAL CHEMISTRY. ISSN 1568-0266, 2019, vol. 19, no. 7, pp. 534-554. SIRKA, Chandra Sekhar - ROUT, Arpita Nibedita - NAIK, Suprava - SAHU, Kananbala. Blue palms and nails: A clue to diagnosis of alkaptonuria. In INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY. ISSN 0378-6323, 2020, vol. 86, no. 6, pp. Dostupné na: https://doi.org/10.4103/ijdvl.IJDVL_275_19. AKBABA, Alper Ilker - OZGUL, Riza Koksal - DURSUN, Ali. Presentation of 14 alkaptonuria patients from Turkey. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. ISSN 0334-018X, 2020, vol. 33, no. 2, pp. 289-294. Dostupné na: https://doi.org/10.1515/jpem-2019-0163. GILDEEVA, G. N. - BELOSTOTSKY, A. V. - GRIDNEV, O. V. Nitisinone drugs bioequivalence in healthy volunteers in fasting state. In EurAsian Journal of BioSciences, 2020-01-01, 14, 1, pp. 817-821. GOMEZ-LECHON QUIROS, L. - HIDALGO CALLEJA, C. - ACOSTA DE LA VEGA, M. E. - COMPAN FERNANDEZ, O. - PASTOR NAVARRO, S. - MONTILLA MORALES, C. Family history of ochronotic arthropathy. In RHEUMATOLOGY INTERNATIONAL. ISSN 0172-8172, 2021, vol. 41, no. 10, pp. 1869-1874. Dostupné na: https://doi.org/10.1007/s00296-020-04640-2. MWAFI, Nesrin R. - ALI, Dema A. - KHALIL, Raida W. - ALSBOU', Ibrahim N. - SARAIREH, Ahmad M. Novel R225C variant identified in the HGD gene in Jordanian patients with alkaptonuria. In AIMS MOLECULAR SCIENCE. ISSN 2372-0301, 2021, vol. 8, no. 1, pp. 60-75. Dostupné na: https://doi.org/10.3934/molsci.2021005. WOLFFENBUTTEL, Bruce H. R. - HEINER-FOKKEMA, M. Rebecca - VAN SPRONSEN, Francjan J. Preventive use of nitisinone in alkaptonuria. In ORPHANET JOURNAL OF RARE DISEASES, 2021, vol. 16, no. 1, pp. Dostupné na: https://doi.org/10.1186/s13023-021-01977-0. MWAFI, Nesrin - ALASMAR, Ali - AL-MOMANI, Monther - ALAZAYDEH, Sattam - ALAJOULIN, Omar - ALSALEM, Mohammad - KALBOUNEH, Heba. Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review. In ASIAN BIOMEDICINE. ISSN 1905-7415, 2021, vol. 15, no. 3, pp. 129-136. Dostupné na: https://doi.org/10.2478/abm-2021-0016. ROOPNARINESINGH, Ryan Curtis - DONLON, Noel Edward - REYNOLDS, John. Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease. In BMJ CASE REPORTS, 2021, vol. 14, no. 12, pp. Dostupné na: https://doi.org/10.1136/bcr-2021-244240. PAASKESEN, Christian Kaare - HOFBAUER, Christian. Alkaptonuria detected during knee arthroplasty treatment. In Ugeskrift for Laeger. ISSN 00415782, 2021-03-22, 182, 6, pp. NELWAN, Martin L. Control of alkaptonuria with nitisinone and gene therapy: A systematic review. In African Journal of Biological Sciences (South Africa), 2021-01-01, 3, 1, pp. 19-33. Dostupné na: https://doi.org/10.33472/AFJBS.3.1.2021.19-33. PLONKA, Joanna - BABIUCH, Monika - BARCHANSKA, Hanna. Influence of nitisinone and its metabolites on L-tyrosine metabolism in a model system. In CHEMOSPHERE, 2022, vol. 286, no., pp. ISSN 0045-6535. Dostupné na: https://doi.org/10.1016/j.chemosphere.2021.131592. BOZACI, Ayse Ergul - YAZICI, Havva - CANDA, Ebru - UCAR, Sema Kalkan - GUVENC, Merve Saka - BERDELI, Afig - HABIF, Sara - COKER, Mahmut. Long-term follow-up of alkaptonuria patients: single center experience. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, vol. 35, no. 7, pp. 913-923. ISSN 0334-018X. Dostupné na: https://doi.org/10.1515/jpem-2022-0004. KISA, P.T. - ERKMEN, S.E. - BAHCECI, H. - GULTEN, Z.A. - AYDOGAN, A. - PEKUZ, O.K.K. - INEL, T.Y. - OZTURK, T. - UYSAL, S. - ARSLAN, N. Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature. In ANNALS OF NUTRITION AND METABOLISM. ISSN 0250-6807, 2022, vol. 78, no. 1, p. 48-60. Dostupné na: https://doi.org/10.1159/000519813. LEQUEUE, S. - NEUCKERMANS, J. - NULMANS, I. - SCHWANEBERG, U. - VANHAECKE, T. - DE KOCK, J. A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. In SCIENTIFIC REPORTS. ISSN 2045-2322, NOV 14 2022, vol. 12, no. 1. Dostupné na: https://doi.org/10.1038/s41598-022-23702-y. ABBAS, Khawar - BASIT, Jawad - REHMAN, Mohammad Ebad ur. Adequacy of nitisinone for the management of alkaptonuria. In Annals of Medicine and Surgery, 2022-08-01, 80, pp. ISSN 20490801. Dostupné na: https://doi.org/10.1016/j.amsu.2022.104340. DENISOVA EKATERINA, V. - KUZIN АLEXANDR, V. Ophthalmological Manifestations of Alkaptonuria. In Oftalmologiya, 2022-03-01, 19, 1, pp. 118-122. ISSN 18165095. Dostupné na: https://doi.org/10.18008/1816-5095-2022-1-118-122. BLOOM, Bruce. Chapter 5: Collaboration Models for Repurposing. In RSC Drug Discovery Series, 2022-01-01, 2022-January, 82, pp. 74-100. ISSN 20413203. Dostupné na: https://doi.org/10.1039/9781839163401-00074. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2016 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1136/annrheumdis-2014-206033 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence 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.pdf Neprístupný/archív 535.9 KB 4 Vydavateľská verzia rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2016 2015 12.384 Q1 5.909 Q1
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