Alkaptonuria diagnosed in a 4-month-old baby girl: a case report

Author:

Datta Asok K,Mandal Syamali,Dasgupta Anindya,Ghosh Tarun K

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Reference8 articles.

1. Grant Mitchell, Iraj Rezvani: Defects in metabolism of amino acids: Tyrosine. Nelson Textbook of Pediatrics. Edited by: Kleigman, Behrman, Jenson, Stanton. 2008, Elsevier Publication: Indian reprint, 1: 534-18

2. Srsen S, Müller CR, Fregin A, Srsnova K: Alkaptonuria in Slovakia: 32 years research on phenotype and genotype. Mol Genet Metab. 2002, 75 (4): 353-9. 10.1016/S1096-7192(02)00002-1.

3. Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbour U, Seemanova E, Kress W: Allelic heterogeneity of Alkaptonuria in Central Europe. Eur J Hum Genet. 1999, 7 (6): 645-51. 10.1038/sj.ejhg.5200343.

4. Cobos Soler FJ, Molero Cabrilla R: ochronosis: a case report with multisystemic affection, including pericardium. An Med Interna. 2002, 19 (11): 583-585.

5. Rayana N, Chahed N, Khochtali S, Ghorbel M, Hamdi R, Rouis M, Bouajina I, Ben Hadj Hamida F: Ocular ochronosis. A case report: J Fr Ophthalmol. 2008, 31 (6): 624.

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1. Clinical presentation of 13 children with alkaptonuria;Journal of Inherited Metabolic Disease;2023-07-10

2. Alkaptonuria in an adolescent boy;BMJ Case Reports;2021-02

3. Ochronotic Arthropathy: Two Case Reports from a Developing Country;Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders;2016-01

4. Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka;Indian Journal of Clinical Biochemistry;2015-11-23

5. Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India);Indian Journal of Clinical Biochemistry;2015-02-28

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