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  1. No Access

    Article

    Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria

    C. Randak, W. Röschinger, B. Rolinski… in Journal of Inherited Metabolic Disease (2000)

  2. No Access

    Article

    MRI of primary meningeal sarcomas in two children: differential diagnostic considerations

    Meningeal sarcomas are very rare, highly aggressive tumours affecting children more frequently than adults. The clinical course and MRI of meningeal sarcomas in two cases are discussed with special regard to ...

    T. Pfluger, S. Weil, S. Weis, K. Bise, J. Egger, H. B. Hadorn, K. Hahn in Neuroradiology (1997)

  3. No Access

    Article

    Mutation analysis in the diagnosis of cystic fibrosis

    Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, ΔF508, causing cystic fibrosis (CF), more than 150 mutat...

    T. Deufel, H. Rabe, T. Wieser, T. Meitinger… in European Journal of Pediatrics (1993)

  4. No Access

    Article

    Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

    In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there...

    H. Ibel, W. Endres, H. -B. Hadorn, T. Deufel, I. Paetzke… in European Journal of Pediatrics (1993)

  5. No Access

    Article

    Interferon alpha-2a therapy of consumptive coagulopathy in Kasabach-Merritt syndrome

    C. Klein, M. Hauser, H. B. Hadorn in European Journal of Pediatrics (1992)

  6. No Access

    Article

    Hartnup syndrome, progressive encephalopathy and allo-albuminaemia

    Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decli...

    Dr. K. Schmidtke, W. Endres, A. Roscher, H. Ibel… in European Journal of Pediatrics (1992)

  7. No Access

    Article

    Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction

    We present a new patient with vitamin D dependent rickets type II. A 20-month-old Arabian boy whose parents are first cousins showed florid rickets, myelofibrosis and recurrent septicaemia. In addition to abse...

    M. M. Walka, S. Däumling, H. -B. Hadorn, K. Kruse… in European Journal of Pediatrics (1991)

  8. No Access

    Article

    Bone marrow transplantation in Lesch-Nyhan disease

    W. Endres, M. Helmig, Y. S. Shin, E. Albert… in Journal of Inherited Metabolic Disease (1991)

  9. No Access

    Chapter and Conference Paper

    Kongenitaler Faktor X-Mangel bei einem viermonatigen Säugling. Diagnostik, Therapie und klinischer Verlauf

    Wir sahen einen viermonatigen, männlichen, arabischen Säugling blutsverwandter Eltern, der in der Neonatalperiode durch ein Kephalhämatom sowie durch Gastro-intestinalblutungen aufgefallen war, und uns unter d...

    C. Brückmann, K. Auberger, A. Prause, B. Dietz, J. Weil… in 17. Hämophilie-Symposion (1988)

  10. No Access

    Chapter and Conference Paper

    Substitutionstherapie mit hochgereinigtem Protein C-Konzentrat bei einem Kind mit homozygotem Protein C-Mangel

    Ein 11 Monate altes arabisches Mädchen, 6. Kind blutsverwandter Eltern, kam zur stationären Aufnahme. Im 7. Lebensmonat fielen erstmals rezidivierende Ekchymo-sen auf, im 9. Lebensmonat dann eine 10 × 10 cm gr...

    K. Auberger, H. Engelmann, J. Weil, Ch. Brückmann, B. Dietz… in 17. Hämophilie-Symposion (1988)

  11. No Access

    Article

    Fetal alcohol syndrome and malignant disease

    W. Kiess, O. Linderkamp, H.-B. Hadorn, R. Haas in European Journal of Pediatrics (1984)