Počet záznamov: 1
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an interantional, multicentre, open-label, randomised controlled trial
Názov Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an interantional, multicentre, open-label, randomised controlled trial Autor Ranganath Lakshminarayan R. Spoluautori Psarelli Eftychia E. Arnoux Jean-Baptiste Braconi Daniela Briggs Michael C. Broijensen Anders Loftus Nadia Bygott Helen Cox Trevor F. Davison A. C. Dillon Jane P. Fischer M. Fitzgerald Richard Genovese Federica Glasová Helena SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV Hall Anthony K. Hughes Andrew T. Hughes Juliette H. Imrich Richard SAVUKTRA ; SAVBIOMED - Ústav klinického a translačného výskumu BMC SAV SCOPUS RID ORCID Jarvis Jonathan C. Khedr Milad Laan Dinny Le Quan Sang Kim - Hanh Luangrath Emily Lukáčová Oľga Milan Anna M. Mistry Alpesh Mlynáriková Vanda Norman Brendan P. Olsson Birgitta Rhodes Nicholas P. Rovenský Jozef Rudebeck Mattias Santucci Annalisa Shweihdi Ella Scott Ciaran Sedláková Jana Sireau Nicholas Stančík Roman Szamosi Johan Taylor S. Kan Christa van Vinjamuri Sobhan Vrtíková Eva Webb Chris West Elizabeth Záňová Elizabeth Zaťková Andrea 1971- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV SCOPUS RID ORCID Gallagher James A. Zdroj.dok. Lancet Diabetes & Endocrinology. Vol. 8, no. 9 (2020), p. 762-772 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy HABERLE, J. Suitability of nitisinone for alkaptonuria. In LANCET DIABETES & ENDOCRINOLOGY. ISSN 2213-8587, SEP 2020, vol. 8, no. 9, p. 732-733. MAHDKHAH, A. - SALEHPOUR, F. - LOTFINIA, I. - RIAZI, A. - MIRZAEE, F. - KALEIBAR, S.A. Asymptomatic alkaptonuria and degenerative disc herniation report of two rare cases. In INTERDISCIPLINARY NEUROSURGERY-ADVANCED TECHNIQUES AND CASE MANAGEMENT. JUN 2022, vol. 28. Dostupné na: https://doi.org/10.1016/j.inat.2021.101471. ROOPNARINESINGH, R.C. - DONLON, N.E. - REYNOLDS, J.V. Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease. In BMJ CASE REPORTS. DEC 2021, vol. 14, no. 12. Dostupné na: https://doi.org/10.1136/bcr-2021-244240. 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. KITAHARA, Y. - KAKU, N. - TAGOMORI, H. - TSUMURA, H. Alkaptonuria with rapidly destructive arthropathy of the hip: A case report and literature review. In ACTA ORTHOPAEDICA ET TRAUMATOLOGICA TURCICA. ISSN 1017-995X, NOV 2021, vol. 55, no. 6, p. 563-+. Dostupné na: https://doi.org/10.5152/j.aott.2021.21205. KRAMER, J. - KRAMER, S. Blood in urine - Clinical diagnostics Diagnosis of a rare metabolic disease. In MONATSSCHRIFT KINDERHEILKUNDE. ISSN 0026-9298, SEP 2022, vol. 170, no. 9, SI, p. 824-827. Dostupné na: https://doi.org/10.1007/s00112-021-01297-4. WOLFFENBUTTEL, B.H.R. - HEINER-FOKKEMA, M.R. - VAN SPRONSEN, F.J. Preventive use of nitisinone in alkaptonuria. In ORPHANET JOURNAL OF RARE DISEASES. AUG 3 2021, vol. 16, no. 1. Dostupné na: https://doi.org/10.1186/s13023-021-01977-0. PLONKA, J. - BABIUCH, M. - BARCHANSKA, H. Influence of nitisinone and its metabolites on L-tyrosine metabolism in a model system. In CHEMOSPHERE. ISSN 0045-6535, JAN 2022, vol. 286, 1. Dostupné na: https://doi.org/10.1016/j.chemosphere.2021.131592. INTRONE, W.J. Nitisinone: two decades treating hereditary tyrosinaemia type 1. In LANCET DIABETES & ENDOCRINOLOGY. ISSN 2213-8587, JUL 2021, vol. 9, no. 7, p. 409-411. Dostupné na: https://doi.org/10.1016/S2213-8587(21)00121-2. MWAFI, N. - ALASMAR, A. - AL-MOMANI, M. - ALAZAYDEH, S. - ALAJOULIN, O. - ALSALEM, M. - KALBOUNEH, H. 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, JUN 2021, vol. 15, no. 3, p. 129-136. Dostupné na: https://doi.org/10.2478/abm-2021-0016. ALI, M.A. - STRATTON, R. Ochronotic arthropathy in alkaptonuria. In RHEUMATOLOGY. ISSN 1462-0324, MAY 2021, vol. 60, no. 5, p. 2486-2486. Dostupné na: https://doi.org/10.1093/rheumatology/keaa660. KISA, P.T. - GUNDUZ, M. - DORUM, S. - UZUN, O.U. - CAKAR, N.E. - YILDIRIM, G.K. - ERDOL, S. - HISMI, B.O. - TUGSAL, H.Y. - UCAR, U. - GORUKMEZ, O. - GULTEN, Z.A. - KUCUKCONGAR, A. - BULBUL, S. - SARI, I. - ARSLAN, N. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients. In EUROPEAN JOURNAL OF MEDICAL GENETICS. ISSN 1769-7212, MAY 2021, vol. 64, no. 5. Dostupné na: https://doi.org/10.1016/j.ejmg.2021.104197. DHYANI, R. - SHANKAR, K. - BHATT, A. - JAIN, S. - HUSSAIN, A. - NAVANI, N.K. Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease. In ANALYTICAL CHEMISTRY. ISSN 0003-2700, MAR 16 2021, vol. 93, no. 10, p. 4521-4527. Dostupné na: https://doi.org/10.1021/acs.analchem.0c04914. SANGEETHA, G. - CHANDRAN, S. - GANESAN, S. - JAYARAJ, J. Alkaptonuria in an adolescent boy. In BMJ CASE REPORTS. FEB 2021, vol. 14, no. 2. Dostupné na: https://doi.org/10.1136/bcr-2020-240147. MOYA-GARZON, M.D. - GOMEZ-VIDAL, J.A. - ALEJO-ARMIJO, A. - ALTAREJOS, J. - RODRIGUEZ-MADOZ, J.R. - FERNANDES, M.X. - SALIDO, E. - SALIDO, S. - DIAZ-GAVILAN, M. Small Molecule-Based Enzyme Inhibitors in the Treatment of Primary Hyperoxalurias. In JOURNAL OF PERSONALIZED MEDICINE. FEB 2021, vol. 11, no. 2. Dostupné na: https://doi.org/10.3390/jpm11020074. MWAFI, N.R. - ALI, D.A. - KHALIL, R.W. - ALSBOU', I.N. - SARAIREH, A.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, p. 60-75. Dostupné na: https://doi.org/10.3934/molsci.2021005. PUENTE, N. - GONZALEZ-LAMUñO, D. - RIANCHO, J.A. Alkaptonuria: Response to low-dose nitisinone in two patients with a new mutation. In MEDICINA CLINICA. ISSN 0025-7753, DEC 23 2022, vol. 159, no. 12, p. 604-605. Dostupné na: https://doi.org/10.1016/j.medcli.2022.08.010. EBRAHIM, I.C. - HOANG, T.D. - VIETOR, N.O. - SCHACHT, J.P. - SHAKIR, M.K.M. Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide. In CLINICAL CASE REPORTS. ISSN 2050-0904, DEC 2022, vol. 10, no. 12. Dostupné na: https://doi.org/10.1002/ccr3.6729. 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. LOCK, E.A. The Discovery of the Mode of Action of Nitisinone. In METABOLITES. OCT 2022, vol. 12, no. 10. Dostupné na: https://doi.org/10.3390/metabo12100902. BOZACI, A.E. - YAZICI, H. - CANDA, E. - UçAR, S.K. - GUVENC, M.S. - BERDELI, A. - HABIF, S. - COKER, M. Long-term follow-up of alkaptonuria patients: single center experience. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. ISSN 0334-018X, JUL 26 2022, vol. 35, no. 7, p. 913-923. Dostupné na: https://doi.org/10.1515/jpem-2022-0004. DEWAN, K. - MACDONALD, C.B. - SHIRES, C.B. Blue man: Ochronosis in Otolaryngology. In CLINICAL CASE REPORTS. ISSN 2050-0904, APR 2022, vol. 10, no. 4. Dostupné na: https://doi.org/10.1002/ccr3.5717. ALTEMIR, A. - BARA, J. - SETó-TORRENT, N. - SALLERAS-REDONNET, M. - MORALES, M. Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation. In CLINICAL AND EXPERIMENTAL DERMATOLOGY. ISSN 0307-6938, APR 2022, vol. 47, no. 4, p. 806-808. Dostupné na: https://doi.org/10.1111/ced.15056. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2020 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/S2213-8587(20)30228-X 
článok
Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Efficacy and safety of once-daily nitisinone for patients with alakaptonuria SONIA2.pdf Neprístupný/archív 5.6 MB 7 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) 2020 2019 25.340 Q1 9.337 Q1
Počet záznamov: 1