[1] |
Bernardini G,Braconi D, Zatkova A,et al.Alkaptonuria[J]. Nat Rev Dis Primers,2024, 10(1):16.
|
[2] |
Davison A S, Norman B P. Alkaptonuria-Past, present and future[J].Adv Clin Chem, 2023, 114(17):47-81.
|
[3] |
Sbou M, Mwafi N. Nine cases of alkaptonuria in one family in southern Jordan[J].Rheumatol Int , 2012, 32(3):621-625.
|
[4] |
Sakthivel S, Zatkova A, Nemethova M, et al. Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence[J]. Ann Hum Genet, 2014, 78(3):155-164.
|
[5] |
Yihien L, Jung T, Chin C, et al. A novel deep intronic variant strongly associates with Alkaptonuria[J]. NPJ Genom Med, 2021, 6(1):89.
|
[6] |
Ranganath L R, Khedr M, Vinjamuri S, et al. Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre[J]. Osteoporos Int , 2021, 32(5):927-938.
|
[7] |
Abdelkhalek Z S, Mahmoud I G, Omair H,et al. Homogentisate 1,2-dioxygenase(HGD) gene variants in young egyptian patients with alkaptonuria[J].Sci Rep, 2023, 13(1):14374.
|
[8] |
Ranganath L R, Khedr M, Vinjamuri S,et al. Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National alkaptonuria centre[J].Osteoporos Int, 2021, 32(5):927-938.
|
[9] |
Paaskesen C K, Hofbauer C. Alkaptonuria detected during knee arthroplasty treatment[J].Ugeskr Laeger. 2020,182(37):271.
|
[10] |
Braconi D, Giustarini D, Marzocchi B, et al. Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the develop AKUre project[J].Osteoarthritis Cartilage,2018, 26(8):1078-1086.
|
[11] |
Sangeetha G, Chandran S, Ganesan S, et al. Alkaptonuria in an adolescentboy[J]. BMJ Case Rep,2021, 14(2):45.
|
[12] |
韩廷成,祁兆建,顾荣胜,等. 家族性褐黄病1例[J]. 中医正骨,2019,12(4):65-67.
|
[13] |
Lakshminarayan R R, James A G, John D, et al. Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty-seven patients with alkaptonuria[J]. J Inherit Metab Dis, 2021, 44(3):656-665.
|
[14] |
吴林峰,龚跃昆,刘劲松,等.尿黑酸性膝关节炎一例并文献复习[J].海南医学,2019,30(14):1885-1887.
|
[15] |
Ali M A,Stratton R. Ochronotic arthropathy in alkaptonuria.[J]. Rheumatology(Oxford, England),2020,4(13):605.
|
[16] |
Ranganath L R, Milan A M, Hughes A T, et al. Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: analysis of data from the United Kingdom National Alkaptonuria Centre[J].JIMD Rep,2020,55(1):75-87.
|
[17] |
Ather N, Roberts W C. Cardiovascular ochronosis[J].Cardiovasc Pathol, 2020,48(7):107219.
|
[18] |
Davison A S, Milan A M, Gallagher J A,et al. Acute fatal metabolic complications in alkaptonuria[J].J Inherit Metab Dis,2016, 39(2):203-210.
|
[19] |
Lang J, Narendrula A, El-Zawahry A, et al .Global trends in incidence and burden of urolithiasis from 1990 to 2019: an analysis of global burden of disease study data[J]. Eur Urol Open Sci, 2022, 3(35):37-46.
|
[20] |
Avadhanula S, Introne W J, Auh S, et al. Assessment of thyroid function in patients with alkaptonuria[J].JAMA Netw Open, 2020, 3(3):357.
|
[21] |
侯文哲,詹飞霞,蒋青青,等.尿黑酸尿症合并周围神经病1例[J]. 中国神经精神疾病杂志,2021,47(12):735-737.
|
[22] |
Ranganath L R, Psarelli E E, Arnoux J B,et al.Efficacy and safety of once daily nitisinone for patients with alkaptonuria(SONIA 2):an international,multicentre,open-label,randomised controlled trial[J]. Lancet Diabetes Endocrinol, 2020, 8(9):762-772.
|
[23] |
Tarawneh A, Limoun M, Khlaifat A M, et al. Bacterial quality of urinary tract in patients with alkaptonuria[J]. Am J Med Sci. 2023,365(4):368-374.
|
[24] |
杨 利,黄 慧,杨 玉,等.尿黑酸尿症一家系基因诊断及分析[J]. 中华实用儿科临床杂志,2015,30(8):608-610.
|
[25] |
Hannoush H, Introne W J, Chen M Y, et al. Aortic stenosis and vascular calcifications in alkaptonuria[J]. Mol Genet Metab, 2012, 105(2):198-202.
|
[26] |
Wu K, Bauer E, Myung G,et al. Musculoskeletal manifestations of Alkaptonuria: a case report and literature review[J].Eur J Rheumatol, 2019, 6(2):98.
|
[27] |
Judd S, Khedr M, Milan M A, et al. The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma[J]. JIMD Rep, 2020, 53(1):45-60.
|
[28] |
Abbas K, Basit J, Rehman M U. Adequacy of nitisinone for the management of alkaptonuria[J]. Ann Med Surg(Lond),2022,80(15):104340.
|
[29] |
Introne W J,Perry M B,Troendle J,et al.A 3-year randomized therapeutic trial of nitisinone in alkaptonuria[J].Mol Genet Metab, 2011,103(17): 307-314.
|
[30] |
Ranganath L R, Milan A M, Hughes A T, et al. 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[J]. Ann Rheum Dis,2016, 75(2):362-367.
|
[31] |
Khedr M, Judd S, Briggs M C, et al. Asymptomatic corneal keratopathy secondary to hypertyrosinaemia following low dose nitisinone and a literature review of tyrosine keratopathy in alkaptonuria[J]. JIMD Rep, 2018, 40(6): 31-37.
|
[32] |
Teke Kisa P, Eroglu Erkmen S, Bahceci H, et al. Efficacy of phenylalanine- and tyrosine-restricted diet in alkaptonuria patients on nitisinone treatment: case series and review of literature[J].Ann Nutr Metab, 2022, 78(1):48-60.
|
[33] |
Belanger M. Przybylska E. Gefteas , et al. Inhibiting neutral amino acid transport for the treatment of phenylketonuria[J]. JCI Insight,2018, 3(14)1-18.
|
[34] |
Ranganath L R, Milan A M, Hughes A T, et al. Comparing the phenylalanine/tyrosine pathway and related factors between keratopathy and no-keratopathy groups as well as between genders in alkaptonuria during nitisinone treatment[J].Metabolites, 2022, 12(8):772.
|
[35] |
Bernardini G, Braconi D, Zatkova A,et al. Alkaptonuria[J]. Nat Rev Dis Primers,2024, 10(1):16.
|
[36] |
陈志安,段培押,周田华,等. 关节腔内注射制剂增强微骨折治疗软骨缺损研究进展[J]. 武警医学,2024,35(1):84-88.
|
[37] |
Maurer E, Maurer M, Flesch I,et al. Black knee-ochronotic alterations in alkaptonuria[J]. Unfallchirurg. 2019;122(11):905-910.
|
[38] |
Castagna A, Giombini A, Vinanti G, et al. Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature[J]. Knee Surg Sports Traumatol Arthrosc,2016, 14(2):176-181.
|
[39] |
Paaskesen C K, Hofbauer C. Alkaptonuria detected during knee arthroplasty treatment[J]. Ugeskr Laeger, 2020, 182(37):1-5.
|
[40] |
Kobak A C, Oder G, Kobak S, et al.Inal V. Ochronoticarthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis[J]. J ClinRheumatol, 2005, 11(6):323-325.
|
[41] |
Hughes J H, Liu K, Plagge A, et al. 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[J].Hum Mol Genet, 2019, 28(23):3928-3939.
|
[42] |
Zatkova A, Ranganath L, Kadasi L. Alkaptonuria: current perspectives[J].Appl Clin Genet, 2020, 1(2):37-47.
|
[43] |
Ottavia S,Vittoria C, Anna V, et al. Towards a precision medicine approach based on machine learning for tailoring medical treatment in alkaptonuria[J]. Int J Mol Sci,2021, 22(3):1187.
|
|
|