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An update on molecular genetics of Alkaptonuria (AKU)
Názov An update on molecular genetics of Alkaptonuria (AKU) Autor Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Zdroj.dok. Journal of Inherited Metabolic Disease. Vol. 34, no. 6 (2011), p. 1127-1136 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy AQUARON, Robert Raphael. Alkaptonuria in France: past experience and lessons for the future. In JOURNAL OF INHERITED METABOLIC DISEASE. ISSN 0141-8955, 2011, vol. 34, no. 6, pp. 1115-1126. HU, Man - MA, Hong Wei - LUO, Yang - WANG, Lin - SONG, Ying - LI, Fang. Gene diagnosis of alkaptonuria in an infant. In Chinese Journal of Contemporary Pediatrics. ISSN 10088830, 2012-10-15, 14, 10, pp. 796-797. GALLAGHER, J.A. - TAYLOR, A.M. - BOYDE, A. - JARVIS, J.C. - RANGANATH, L.R. Recent advances in understanding the pathogensis of ochronosis. In Reumatologia (Warsaw), 2012, vol. 50, no. 4, p. 316-323 YOUSEFGHAHARI, Behnaz - AHMADI, Abbasali - GURAN, Ardeshir. Three cases of alkaptonuria in one family in mazandaran province, iran. In Caspian Journal of Internal Medicine. ISSN 20086164, 2013-06-19, 4, 2, pp. 677-680. YANG, Yong-jia - GUO, Ji-hong - CHEN, Wei-jian - ZHAO, Rui - TANG, Jin-song - MENG, Xiao-hua - ZHAO, Liu - TU, Ming - HE, Xin-yu - WU, Ling-qian - ZHU, Yi-min. First report of HGD mutations in a Chinese with alkaptonuria. In GENE. ISSN 0378-1119, 2013, vol. 518, no. 2, pp. 467-469. TOUSSIROT, Eric - AQUARON, Robert. Short-Term Efficacy of Hyaluronic Acid Joint Injections in a Case of Ochronotic Arthropathy. In JCR-JOURNAL OF CLINICAL RHEUMATOLOGY. ISSN 1076-1608, 2013, vol. 19, no. 3, pp. 152-+. ALSBOU, Mohammed - MWAFI, Nesrin. A Previously Undiagnosed Case of Alkaptonuria: A Case Report. In TURKISH JOURNAL OF RHEUMATOLOGY. ISSN 1309-0291, 2013, vol. 28, no. 2, pp. 132-135. JEOUNG, Jae-Hun - BOMMER, Martin - LIN, Tzong-Yuan - DOBBEK, Holger. Visualizing the substrate-, superoxo-, alkylperoxo-, and product-bound states at the nonheme Fe(II) site of homogentisate dioxygenase. In PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. ISSN 0027-8424, 2013, vol. 110, no. 31, pp. 12625-12630. BRACONI, Daniela - MILLUCCI, Lia - GHEZZI, Lorenzo - SANTUCCI, Annalisa. Redox proteomics gives insights into the role of oxidative stress in alkaptonuria. In EXPERT REVIEW OF PROTEOMICS. ISSN 1478-9450, 2013, vol. 10, no. 6, pp. 521-535. AQUARON, Robert. Alkaptonuria: A Very Rare Metabolic Disorder. In INDIAN JOURNAL OF BIOCHEMISTRY & BIOPHYSICS. ISSN 0301-1208, 2013, vol. 50, no. 5, pp. 339-344. LINDNER, Moritz - BERTELMANN, Thomas. On the ocular findings in ochronosis: a systematic review of literature. In BMC OPHTHALMOLOGY. ISSN 1471-2415, 2014, vol. 14, no., pp. FIELDING, Andrew J. - LIPSCOMB, John D. - QUE, Lawrence. A two-electron-shell game: intermediates of the extradiol-cleaving catechol dioxygenases. In JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY. ISSN 0949-8257, 2014, vol. 19, no. 4-5, pp. 491-504. CRAIDE, Fernanda Helena - BARBOSA MARTINS DA FONSECA, Juliana Salvini - MARIANO, Priscila Coelho - FERNANDEZ, Natalia Monteiro - CARNEIRO DE CASTRO, Carlos Gustavo - LIMA MENE, Yuri de Souza. Alkaptonuria Case report. In ANAIS BRASILEIROS DE DERMATOLOGIA. ISSN 0365-0596, 2014, vol. 89, no. 5, pp. 799-801. HABBAL, Mohammad Zouheir - BOU-ASSI, Tarek - ZHU, Jun - OWEN, Renius - CHEHAB, Farid F. First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria. In PLOS ONE. ISSN 1932-6203, 2014, vol. 9, no. 9, pp. PRESTON, Andrew J. - KEENAN, Craig M. - SUTHERLAND, Hazel - WILSON, Peter J. - WLODARSKI, Brenda - TAYLOR, Adam M. - WILLIAMS, Dominic P. - RANGANATH, Lakshminarayan R. - GALLAGHER, James A. - JARVIS, Jonathan C. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. In ANNALS OF THE RHEUMATIC DISEASES. ISSN 0003-4967, 2014, vol. 73, no. 1, pp. 284-289. KRAUS, Virginia Byers. Rare osteoarthritis: Ochronosis and Kashin-Beck disease. In Rheumatology: Sixth Edition, 2014-06-19, 2-2, pp. 1536-1547. LI, Hongying - ZHANG, Kaihui - XU, Qun - MA, Lixia - LV, Xin - SUN, Ruopeng. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. ISSN 0334-018X, 2015, vol. 28, no. 3-4, pp. 453-456. MILLUCCI, Lia - BRACONI, Daniela - BERNARDINI, Giulia - LUPETTI, Pietro - ROVENSKY, Josef - RANGANATH, Lakshminaryan - SANTUCCI, Annalisa. Amyloidosis in alkaptonuria. In JOURNAL OF INHERITED METABOLIC DISEASE. ISSN 0141-8955, 2015, vol. 38, no. 5, pp. 797-805. GENOVESE, F. - SIEBUHR, A. S. - MUSA, K. - GALLAGHER, J. A. - MILAN, A. M. - KARSDAL, M. A. - ROVENSKY, J. - BAY-JENSEN, A. C. - RANGANATH, L. R. Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria. In JIMD REPORTS, VOL 24. ISSN 2192-8304, 2015, vol. 24, no., pp. 29-37. BRACONI, Daniela - MILLUCCI, Lia - BERNARDINI, Giulia - SANTUCCI, Annalisa. Oxidative stress and mechanisms of ochronosis in alkaptonuria. In FREE RADICAL BIOLOGY AND MEDICINE. ISSN 0891-5849, 2015, vol. 88, no., pp. 70-80. WOLFF, Fleur - BIAOU, Ibrahim - KOOPMANSCH, Caroline - BOSSCHE, Marc Vanden - POZDZIK, Agnieszka - ROUMEGUERE, Thierry - COTTON, Frederic. Renal and prostate stones composition in alkaptonuria: a case report. In CLINICAL NEPHROLOGY. ISSN 0301-0430, 2015, vol. 84, no. 6, pp. 339-343. DAVISON, A. S. - MILAN, A. M. - GALLAGHER, J. A. - RANGANATH, L. R. Acute fatal metabolic complications in alkaptonuria. In JOURNAL OF INHERITED METABOLIC DISEASE. ISSN 0141-8955, 2016, vol. 39, no. 2, pp. 203-210. GALLAGHER, James A. - DILLON, Jane P. - SIREAU, Nicolas - TIMMIS, Oliver - RANGANATH, Lakshminarayan R. Alkaptonuria: An example of a "fundamental disease"-A rare disease with important lessons for more common disorders. In SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY. ISSN 1084-9521, 2016, vol. 52, no., pp. 53-57. MA, Min - LUO, Shulin - WEI, Yanhui - LU, Liangyu - CAI, Junfeng - YIN, Feng. A case report of two mutations of the homogentisate 1,2-dioxygenase gene in a Chinese Alkaptonuria. In INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE. ISSN 1940-5901, 2016, vol. 9, no. 10, pp. 20372-20375. MALLICK, Parag. Complexity and Information: Cancer as a Multi-Scale Complex Adaptive System. In PHYSICAL SCIENCES AND ENGINEERING ADVANCES IN LIFE SCIENCES AND ONCOLOGY: A WTEC GLOBAL ASSESSMENT. ISSN 2213-1965, 2016, vol., no., pp. 5-29. QI, Yue - LU, Jiarui - LAI, Wenzhen. Insights into the Reaction Mechanism of Aromatic Ring Cleavage by Homogentisate Dioxygenase: A Quantum Mechanical/Molecular Mechanical Study. In JOURNAL OF PHYSICAL CHEMISTRY B. ISSN 1520-6106, 2016, vol. 120, no. 20, pp. 4579-4590. STACEY, Minviluz G. - CAHOON, Rebecca E. - NGUYEN, Hanh T. - CUI, Yaya - SATO, Shirley - NGUYEN, Cuong T. - PHOKA, Nongnat - CLARK, Kerry M. - LIANG, Yan - FORRESTER, Joe - BATEK, Josef - PHAT TIEN DO - SLEPER, David A. - CLEMENTE, Thomas E. - CAHOON, Edgar B. - STACEY, Gary. Identification of Homogentisate Dioxygenase as a Target for Vitamin E Biofortification in Oilseeds. In PLANT PHYSIOLOGY. ISSN 0032-0889, 2016, vol. 172, no. 3, pp. 1506-1518. TAYLOR, Adam M. - KAMMATH, Vishnu - BLEAKLEY, Aaron. Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? In MEDICAL HYPOTHESES. ISSN 0306-9877, 2016, vol. 91, no., pp. 77-80. VENTURA-RIOS, L. - HERNANDEZ-DIAZ, C. - GUTIERREZ-PEREZ, L. - BERNAL-GONZALEZ, A. - PICHARDO-BAHENA, R. - CEDENO-GARCIDUENAS, A. L. - PINEDA, C. Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review. In CLINICAL RHEUMATOLOGY. ISSN 0770-3198, 2016, vol. 35, no. 5, pp. 1389-1395. LIU, Zhi. Imaging analysis of two cases of alcaptonuria. In Chinese Journal of Radiology (China). ISSN 10051201, 2016-09-10, 50, 9, pp. 705-706. 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. WITT, Kai-Axel - HOLSCHEN, M. - WAGNER, L. - STEINBECK, J. Ochronotic arthropathy due to alcaptonuria (Black shoulder). Rare indication for total shoulder arthroplasty. In OBERE EXTREMITAET-SCHULTER-ELLENBOGEN-HAND-UPPER EXTREMITY-SHOULDER ELBOW HAND. ISSN 1862-6599, 2017, vol. 12, no. 2, pp. 115-118. AKTUGLU-ZEYBEK, A. Cigdem - ZUBARIOGLU, Tanyel. Nitisinone: A review. In Orphan Drugs: Research and Reviews, 2017-01-31, 7, pp. 25-35. LAKSHMI, K. S. - GOMATHY, R. - ARUNDHATHI, S. - PRATHIBHA, S. Myocardial Infarction with Alkaptonuria: A Case Report. In JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH. ISSN 2249-782X, 2018, vol. 12, no. 1, pp. BD1-BD2. FREEMAN, Amanda R. - WILLS, Stephen M. Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. In FORENSIC SCIENCE MEDICINE AND PATHOLOGY. ISSN 1547-769X, 2018, vol. 14, no. 2, pp. 236-240. PARTHASARATHY, Anutthaman - CROSS, Penelope J. - DOBSON, Renwick C. J. - ADAMS, Lily E. - SAVKA, Michael A. - HUDSON, Andre O. A Three-Ring Circus: Metabolism of the Three Proteogenic Aromatic Amino Acids and Their Role in the Health of Plants and Animals. In FRONTIERS IN MOLECULAR BIOSCIENCES, 2018, vol. 5, no., pp. DAVISON, A. S. - NORMAN, B. P. - SMITH, E. A. - DEVINE, J. - USHER, J. - HUGHES, A. T. - KHEDR, M. - MILAN, A. M. - GALLAGHER, J. A. - RANGANATH, L. R. Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone. In JIMD REPORTS: FOCUS ISSUE: ADULTS AND METABOLISM, VOL 41. ISSN 2192-8304, 2018, vol. 41, no., pp. 109-117. ZHAI, Guangju - RANDELL, Edward W. - RAHMAN, Proton. Metabolomics of osteoarthritis: emerging novel markers and their potential clinical utility. In RHEUMATOLOGY. ISSN 1462-0324, 2018, vol. 57, no. 12, pp. 2087-2095. KILAVUZ, Sebile - BULUT, Fatma Derya - KOR, Deniz - YILMAZ, Berna Seker - BASARAN, Sibel - SARPEL, Tunay - MUNGAN, Neslihan Onenli. Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience. In JOURNAL OF PEDIATRIC RESEARCH. ISSN 2147-9445, 2018, vol. 5, no. 1, pp. 7-11. RANGANATH, L. R. - KHEDR, M. - MILAN, A. M. - DAVISON, A. S. - HUGHES, A. T. - USHER, J. L. - TAYLOR, S. - LOFTUS, N. - DAROSZEWSKA, A. - WEST, E. - JONES, A. - BRIGGS, M. - FISHER, M. - MCCORMICK, M. - JUDD, S. - VINJAMURI, S. - GRIFFIN, R. - PSARELLI, E. E. - COX, T. F. - SIREAU, N. - DILLON, J. P. - DEVINE, J. M. - HUGHES, G. - HARROLD, J. - BARTON, G. J. - JARVIS, J. C. - GALLAGHER, J. A. Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. In MOLECULAR GENETICS AND METABOLISM. ISSN 1096-7192, 2018, vol. 125, no. 1-2, pp. 127-134. ANTHONY, Eleni - ARNOLD, Andreas W. - KERN, Johannes S. Bluish grey pigmentation. In JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. ISSN 1610-0379, 2018, vol. 16, no. 9, pp. 1149-1151. LANGFORD, Bryony - BESFORD, Megan - HALL, Aimee - EDDOWES, Lucy - TIMMIS, Oliver - GALLAGHER, James A. - RANGANATH, Lakshminarayan. Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features. In JIMD REPORTS: FOCUS ISSUE: ADULTS AND METABOLISM, VOL 41. ISSN 2192-8304, 2018, vol. 41, no., pp. 53-62. DAVISON, A. S. - NORMAN, B. - MILAN, A. M. - HUGHES, A. T. - KHEDR, M. - ROVENSKY, J. - GALLAGHER, J. A. - RANGANATH, L. R. Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment. In JIMD REPORTS: FOCUS ISSUE: ADULTS AND METABOLISM, VOL 41. ISSN 2192-8304, 2018, vol. 41, no., pp. 1-10. YANG, Wenjun - RUAN, Lifang - TAO, Jiangming - PENG, Donghai - ZHENG, Jinshui - SUN, Ming. Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis. In FRONTIERS IN MICROBIOLOGY. ISSN 1664-302X, 2018, vol. 9, no., pp. TAYLOR, Joseph M. - HUGHES, Andrew T. - MILAN, Anna M. - RUDGE, James - DAVISON, Andrew S. - RANGANATH, Lakshminarayan R. Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria. In BIOANALYSIS. ISSN 1757-6180, 2018, vol. 10, no. 23, pp. 1919-1932. ARORA, Sandeep - SODHI, Neha - HARITH, Arun Kumar - KAPOOR, Umesh. A case of ‘blue skin’ and ‘dark urine’. In Medical Journal Armed Forces India. ISSN 03771237, 2018-07-01, 74, 3, pp. 300-303. 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. 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. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, 2019, vol. 28, no. 23, pp. 3928-3939. JIANG, Lifeng - CAO, Le - FANG, Jinghua - YU, Xinning - DAI, Xuesong - MIAO, Xudong. Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria A 6 years follow-up case report in China. In MEDICINE. ISSN 0025-7974, 2019, vol. 98, no. 34, pp. 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. A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria. In CLINICAL CHEMISTRY. ISSN 0009-9147, 2019, vol. 65, no. 4, pp. 530-539. ELISA PAVAN, Maria - SOLAR VENERO, Esmeralda - EGOBURO, Diego E. - PAVAN, Esteban E. - LOPEZ, Nancy I. - JULIA PETTINARI, M. Glycerol inhibition of melanin biosynthesis in the environmental Aeromonas salmonicida 34mel(T). In APPLIED MICROBIOLOGY AND BIOTECHNOLOGY. ISSN 0175-7598, 2019, vol. 103, no. 4, pp. 1865-1876. DAVISON, A. S. - HUGHES, A. T. - MILAN, A. M. - SIREAU, N. - GALLAGHER, J. A. - RANGANATH, L. R. Alkaptonuria Many questions answered, further challenges beckon. In ANNALS OF CLINICAL BIOCHEMISTRY. ISSN 0004-5632, 2020, vol. 57, no. 2, pp. 106-120. Dostupné na: https://doi.org/10.1177/0004563219879957. CHOW, Wing Ying - NORMAN, Brendan P. - ROBERTS, Norman B. - RANGANATH, Lakshminarayan R. - TEUTLOFF, Christian - BITTL, Robert - DUER, Melinda J. - GALLAGHER, James A. - OSCHKINAT, Hartmut. Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. In ANGEWANDTE CHEMIE-INTERNATIONAL EDITION. ISSN 1433-7851, 2020, vol. 59, no. 29, pp. 11937-11942. Dostupné na: https://doi.org/10.1002/anie.202000618. DAVISON, A. S. - LUANGRATH, E. - SELVI, E. - RANGANATH, L. R. Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria ? Is nitisinone the solution? In MOLECULAR GENETICS AND METABOLISM REPORTS, 2020, vol. 23, no., pp. Dostupné na: https://doi.org/10.1016/j.ymgmr.2020.100588. ATHER, Nuvaira - ROBERTS, William C. Cardiovascular ochronosis. In CARDIOVASCULAR PATHOLOGY. ISSN 1054-8807, 2020, vol. 48, no., pp. Dostupné na: https://doi.org/10.1016/j.carpath.2020.107219. AL DOSARI, Mohamed Al Ateeq - ELMHIREGH, Aissam - ABULHAIL, Safa - BABIKIR, Elhadi - HAMEED, Shamsi Abdul. Total knee arthroplasty for Ochronosis induced knee arthropathy. Case report. In INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS. ISSN 2210-2612, 2020, vol. 72, no., pp. 260-265. Dostupné na: https://doi.org/10.1016/j.ijscr.2020.06.005. THIMMAPURAM, Rashmi - BANDETTINI, W. Patricia - SHANBHAG, Sujata M. - YU, Jeannie H. - O'BRIEN, Kevin J. - GAHL, William A. - INTRONE, Wendy J. - CHEN, Marcus Y. Aortic distensibility in alkaptonuria. In MOLECULAR GENETICS AND METABOLISM. ISSN 1096-7192, 2020, vol. 130, no. 4, pp. 289-296. Dostupné na: https://doi.org/10.1016/j.ymgme.2020.05.006. 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. HUGHES, Juliette H. - BOU-GHARIOS, George - RANGANATH, Lakshminarayan R. - GALLAGHER, James A. The contribution of mouse models in the rare disease alkaptonuria. In Drug Discovery Today: Disease Models, 2020-06-01, 31, pp. 37-43. Dostupné na: https://doi.org/10.1016/j.ddmod.2019.10.005. RYZHKOV, A. D. - KRYLOV, A. S. - BLUDOV, A. B. - KUZIN, A. V. - KASPSHIK, S. M. - DOLGUSHIN, M. B. Evaluation of the SPECT/CT method in the diagnosis of Alkaptonuric Ochronosis. clinical case. In Medical Radiology and Radiation Safety. ISSN 10246177, 2020-01-01, 65, 2, pp. 82-86. Dostupné na: https://doi.org/10.12737/1024-6177-2020-65-2-82-86. CHOW, Wing Ying - NORMAN, Brendan P. - ROBERTS, Norman B. - RANGANATH, Lakshminarayan R. - TEUTLOFF, Christian - BITTL, Robert - DUER, Melinda J. - OSCHKINAT, Hartmut. Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. In Advanced Materials, 2020-01-01, 132, 29, pp. 12035-12040. ISSN 09359648. Dostupné na: https://doi.org/10.1002/ANGE.202000618. WU, Guoyao. Amino Acids: Biochemistry and Nutrition, Second Edition. In Amino Acids: Biochemistry and Nutrition, Second Edition, 2021-01-01, pp. 1-788. Dostupné na: https://doi.org/10.1201/9781003092742. KUZIN, Alexander V. - AMIRDZHANOVA, Vera N. - ZAYTSEVA, Elena M. - DOLZHENKOVA, Elena A. Quality of life of patients with alkaptonuria. In Nauchno-Prakticheskaya Revmatologiya, 2021-01-01, 59, 1, pp. 93-96. ISSN 19954484. Dostupné na: https://doi.org/10.47360/1995-4484-2021-93-96. GOROZHANIN, A. V. - KUZIN, A. V. - BLUDOV, A. B. - RADENSKA-LOPOVOK, S. G. - SMIRNOV, A. V. - KUZIN, D. A. - KRYLOV, A. S. Severe spine lesion following alkaptonuria. Case report. In Zhurnal Voprosy Nejrokhirurgii Imeni N.N. Burdenko, 2021-01-01, 85, 5, pp. 104-109. ISSN 00428817. Dostupné na: https://doi.org/10.17116/neiro202185051104. 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. LAI, Chien-Yi - TSAI, I-Jung - CHIU, Pao-Chin - ASCHER, David B. - CHIEN, Yin-Hsiu - HUANG, Yu-Hsuan - LIN, Yi-Lin - HWU, Wuh-Liang - LEE, Ni-Chung. A novel deep intronic variant strongly associates with Alkaptonuria. In NPJ GENOMIC MEDICINE, 2021, vol. 6, no. 1, pp. Dostupné na: https://doi.org/10.1038/s41525-021-00252-2. 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. 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. 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. Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. In GENES & DISEASES, 2022, vol. 9, no. 4, pp. 1129-1142. ISSN 2352-4820. Dostupné na: https://doi.org/10.1016/j.gendis.2021.02.007. TAO, Lvyan - DENG, Chengjun - MA, Mingbiao - ZHANG, Yu - DUAN, Jintao - LI, Ying - FANG, Li - ZHOU, Yuantao - HE, Xiaoli - WANG, Yan - WANG, Mingying - LI, Li. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. In CLINICA CHIMICA ACTA, 2022, vol. 532, no., pp. 164-171. ISSN 0009-8981. Dostupné na: https://doi.org/10.1016/j.cca.2022.04.998. 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. KARMAKAR, M. - CICALONI, V. - RODRIGUES, C.H.M. - SPIGA, O. - SANTUCCI, A. - ASCHER, D.B. HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase. In CURRENT RESEARCH IN STRUCTURAL BIOLOGY. 2022, vol. 4, p. 271-277. Dostupné na: https://doi.org/10.1016/j.crstbi.2022.08.001. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2011 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1007/s10545-011-9363-z 
článok
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) 2011 2010 3.808 Q2 0.871 Q3
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