© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_24 24. Differential Diagnosis of the Disease Jozef Rovenský1, 2 and Oľga Lukáčová1 (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia (2)…
© 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…
© 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…
Decade Total number of patients with alkaptonuria and ochronosis Number of patients with ochronosis Percentage of cases of alkaptonuria associated with ochronosis I 21 1 4.76 II 14 0 0…
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
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.,…
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…
© 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,…
© 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
