Rare Complications of Alkaptonuria: Haemolysis and Amyloidosis

Oct 14, 2016 by in RHEUMATOLOGY Comments Off on Rare Complications of Alkaptonuria: Haemolysis and Amyloidosis

© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_22 22. Rare Complications of Alkaptonuria: Haemolysis and Amyloidosis Richard Imrich1  , Jozef Rovenský2, 3   and Žofia Rádiková4   (1) Laboratory of Human Endocrinology, Center…

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Picture of Synovial Effusion in Ochronosis

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© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_21 21. Picture of Synovial Effusion in Ochronosis Tibor Urbánek1   and Jozef Rovenský1, 2   (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia…

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Ochronotic Arthropathy

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Anthropometric measurements Body height Height in sitting position Acromion-dactylion Trochanterion Gender Males Females Males Females Males Females Values in healthy people (cm) 171.4 157.1 90.6

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Experimental Alkaptonuria in Animals

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Butts, J.S., Dunn, M.S., Hallman, L.F.: Studies in amino acid metabolism. Metabolism of D/’-phenylalanine and Di-tyrosine in a normal rat. J. Biol. Chem. 123, 711–718 (1938) Montagutelli, X., Lalouette, A.,…

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Genetics of Alkaptonuria

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Fig. 7.1 Distribution of AKU mutations in the HGD gene (Zat´ková 2011). 1–14 exons, Kb kilobase. Variants IVS9-56G>A** and IVS9-17G>A** were published as mutations, but (Vilboux et al. 2009) reported…

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Detection of Homogentisic Acid in Plasma and Urine

Oct 14, 2016 by in RHEUMATOLOGY Comments Off on Detection of Homogentisic Acid in Plasma and Urine

© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_6 6. Detection of Homogentisic Acid in Plasma and Urine Mária Stančíková1   and Jozef Rovenský1, 2   (1) National Institute of Rheumatic Diseases,…

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History

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Garrod, A.E.: Inborn errors of metabolism. Hodder and Stoughton, London (1909) Hüttl, S., Markovic, O., Siťaj, Š.: Hemarthrosis in ochronotic arthropathy. Z. Rheumaforsch. 25, 169–181 (1966)PubMed La Du, B.N., Zannoni,…

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Introduction

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© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_1 1. Introduction Jozef Rovenský1, 2  

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Alkaptonuria and Ochronosis

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(1) 2nd Clinic of Internal Medicine, University Hospital, Hradec Kralove, Czech Republic   The very interesting topic of alkaptonuria including metabolism of proteins and particularly of aromatic amino acids has…

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