Počet záznamov: 1  

Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an interantional, multicentre, open-label, randomised controlled trial

  1. NázovEfficacy 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)
    OhlasyHABERLE, 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.
    KategóriaADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných
    Kategória (od 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Typ výstupučlánok
    Rok vykazovania2020
    Registrované vWOS
    Registrované vSCOPUS
    Registrované vCCC
    DOI 10.1016/S2213-8587(20)30228-X
    článok

    článok

    Názov súboruPrístupVeľkosťStiahnutéTypLicence
    Efficacy and safety of once-daily nitisinone for patients with alakaptonuria SONIA2.pdfNeprístupný/archív5.6 MB7Vydavateľská verzia
    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    A
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    2020201925.340Q19.337Q1
Počet záznamov: 1  

  Tieto stránky využívajú súbory cookies, ktoré uľahčujú ich prezeranie. Ďalšie informácie o tom ako používame cookies.