| 1 |
A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria |
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| Lvyan Tao, Chengjun Deng, Mingbiao Ma, Yu Zhang, Jintao Duan, Ying Li, Li Fang, Yuantao Zhou, Xiaoli He, Yan Wang, Mingying Wang, Li Li |
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| Clinica Chimica Acta. 2022; |
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| 2 |
Ophthalmological Manifestations of Alkaptonuria |
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| E. V. Denisova, A. V. Kuzin |
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| Ophthalmology in Russia. 2022; 19(1): 118 |
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| 3 |
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India |
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| Sumita Danda, Sony Mohan, Prabavathi Devaraj, Atanu K. Dutta, Sheela Nampoothiri, Dhanya Yesodharan, Shubha R. Phadke, Anil B. Jalan, K. Thangaraj, Ishwar Chandra Verma, Debashish Danda, Isaac Jebaraj |
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| Clinical Rheumatology. 2020; 39(9): 2743 |
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| 4 |
Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence |
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| Srinivasan Sakthivel,Andrea Zatkova,Martina Nemethova,Milan Surovy,Ludevit Kadasi,Madurai P. Saravanan |
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| Annals of Human Genetics. 2014; 78(3): 155 |
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On the ocular findings in ochronosis: a systematic review of literature |
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| Moritz Lindner,Thomas Bertelmann |
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Alkaptonuria is a novel human secondary amyloidogenic disease |
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| Lia Millucci,Adriano Spreafico,Laura Tinti,Daniela Braconi,Lorenzo Ghezzi,Eugenio Paccagnini,Giulia Bernardini,Loredana Amato,Marcella Laschi,Enrico Selvi,Mauro Galeazzi,Alessandro Mannoni,Maurizio Benucci,Pietro Lupetti,Federico Chellini,Maurizio Orlandini,Annalisa Santucci |
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Alkaptonuria is a novel human secondary amyloidogenic disease |
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| Millucci, L. and Spreafico, A. and Tinti, L. and Braconi, D. and Ghezzi, L. and Paccagnini, E. and Bernardini, G. and Amato, L. and Laschi, M. and Selvi, E. and Galeazzi, M. and Mannoni, A. and Benucci, M. and Lupetti, P. and Chellini, F. and Orlandini, M. and Santucci, A. |
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| Biochimica et Biophysica Acta - Molecular Basis of Disease. 2012; 1822(11): 1682-1691 |
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Identification of forty cases with alkaptonuria in one village in Jordan |
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| Mohammed Al-sbou, Nesrin Mwafi, Mohammad Abu Lubad |
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| Rheumatology International. 2011; |
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| 9 |
Urine darkening disease: Alkaptonuria [Ä°drari{dotless |
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| Aslan, E. and Yavuz, H. |
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| Guncel Pediatri. 2010; 8(2): 78-80 |
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| 10 |
HLA-B27: whatæs new? |
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| N. J. Sheehan |
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| Rheumatology. 2010; 49(4): 621 |
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