ALKAPTONURIA

作品数：6被引量：2H指数：1
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Ochronotic arthropathy of bilateral hip joints:A case report
《World Journal of Clinical Cases》2023年第1期210-217,共8页Nicolas Yap San Min Urba Rafi Juan Wang Bin He Lei Fan 
BACKGROUND Ochronosis,also known as alkaptonuria,is a rare autosomal recessive selfmetabolic disease arising from deficiency of homogentisate 1,2 dioxygenase enzyme.It affects several organs and muscoskeletal structur...
关键词：ALKAPTONURIA Metabolic disease Ochronotic osteoarthropathy Hip arthritis Bilateral hip arthroplasty Case report 
One-stage revision arthroplasty in a patient with ochronotic arthropathy accompanied by joint infection:A case report
《World Journal of Clinical Cases》2022年第25期9036-9043,共8页Xiao-Chao Wang Xiao-Min Zhang Wan-Ling Cai Zhen Li Chao Ma Yi-Hai Liu Qi-Lian He Tian-Sheng Yan Xue-Wei Cao 
Supported by Talent Training Project of Guangdong Provincial Bureau of Traditional Chinese Medicine,No.0103030908;Guangdong Provincial Hospital of Traditional Chinese Medicine and the School of Biomedicine,Chinese University of Hong Kong School of Medicine,Basic Clinical Collaborative Innovation Project,No.YN2018HK04。
BACKGROUND Ochronotic arthropathy(OcA)is a rare disease,which is caused by the accumulation of homogentisic acid in the joint.Patients with OcA have obvious joint pain and the disease progresses rapidly,eventually res...
关键词：Ochronotic arthropathy Arthroplasty One-stage revision ALKAPTONURIA Homogentisic acid Case report 
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism被引量：1
《Genes & Diseases》2022年第4期1129-1142,共14页Brendan P.Norman Andrew S.Davison Juliette H.Hughes Hazel Sutherland Peter J.M.Wilson Neil G.Berry Andrew T.Hughes Anna M.Milan Jonathan C.Jarvis Norman B.Roberts Lakshminarayan R.Ranganath George Bou-Gharios James A.Gallagher 
BPN is funded by the University of Liverpool,Royal Liverpool University Hospitals Trust and Agilent Technologies UK Ltd.ASD is funded through a National Institute for Health Research Doctoral Research Fellowship(No.HCS DRF-2014-05-009).
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic a...
关键词：ALKAPTONURIA BIOTRANSFORMATION METABOLISM Metabolomics Mice 
Aortic Valve in Black: A Case of Aortic Valve Ochronosis被引量：1
《World Journal of Cardiovascular Surgery》2022年第6期128-134,共7页Ahmed Elagamy Musa Oliver Grimmig Jenny Sonke 
Alkaptonuria is a rare inherited tyrosine metabolism disorder, resulting in homogentisic acid deposition in the connective tissues. The condition is commonly referred to as ochronosis and manifests as skin pigmentatio...
关键词：ALKAPTONURIA Aortic Valve Ochronosis Black Aortic Valve Black Aortic Intima 
Multiple Arthroplasty in a Patient with Alkaptonuric Arthritis
《Chinese Medical Journal》2015年第17期2404-2405,共2页Chen-Yi Ye De-Ting Xue Xi Chen Rong-Xin He 
Alkaptonuria （AKU） is an extremely rare autosomal recessive metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis, affecting only 2 5 in a million individuals. The managemen...
关键词：ALKAPTONURIA OCHRONOSIS Ochronotic Arthritis Total Hip Replacement 
Extensive prostatic calculi in alkaptonuria:An unusual manifestation of rare disease
《Asian Journal of Urology》2015年第3期179-181,共3页Gaurav Sali Appu Thomas Ginil Kumar Balagopalan Nair Kalvampara Sanjeevan Georgie Mathew Kannan Nair 
Extensive prostatic calculi in a young man should always elicit the suspicion of alkaptonuria.Although prostatic calculi are seen in chronic prostatitis,chronic pelvic pain syndrome and benign prostate hyperplasia,non...
关键词：ALKAPTONURIA CALCULI Lower urinary tract symptoms Prostate Young 
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