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Πλοήγηση ανά Θέμα "autosomal dominant disorder"

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    • Acro-osteolysis 

      Botou A., Bangeas A., Alexiou I., Sakkas L.I. (2017)
      Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal ...

    • Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia 

      Tsantoula, F.; Kioumi, A.; Germenis, A. E.; Speletas, M. (2014)
      A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ...

    • International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency 

      Farkas H., Martinez-Saguer I., Bork K., Bowen T., Craig T., Frank M., Germenis A.E., Grumach A.S., Luczay A., Varga L., Zanichelli A., HAWK, Aberer W., Andrejevic S., Aygoeren-Pürsün E., Banerji A., Bara N.-A., Bas M., Bernstein J., Betschel S., Björkander J., Boccon-Gibod I., Bouillet L., Bova M., Boysen H.H., Branco-Ferreira M., Bygum A., Caballero T., Cancian M., Castaldo A., Christiansen S., Cicardi M., Drouet C., Fabiani J., Gompels M., Gonzalez-Quevedo M.T., Gooi J., Gower R., Gökmen N.M., Grivcheva-Panovska V., Guilarte M., Gülbahar O., Hack E., Hakl R., Harmat G., Jeseňák M., Jolles S., Kaplan A., Katelaris C., Kosnik M., Kőhalmi K.V., Leibovich I., Levi M., Li H., Longhurst H.J., Lumry W., Magerl M., Malbran A., Martin L., Maurer M., Mihály E., Moldovan D., Murdjeva M., Nagy I.B., Nielsen E.W., Nieto S., Nordenfelt P., Obtulowitzc K., Pedrosa M., Porębski G., Prior N., Reshef A., Riedl M.A., Rosenkranz B., Schmid-Grendelmeier P., Péter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Wuillemin W., Xiang Z.Y., Yamamoto B., Zuraw B. (2017)
      Background: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric ...

    • Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...