Search Results - "Neudorf, U."

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    Kawasaki disease in children and adolescents by Neudorf, U

    Published in Zeitschrift für Rheumatologie (01-12-2011)
    “…Kawasaki disease (KD) is a systemic vasculitis of unknown etiology. The diagnostic criteria are fulfilled with fever of unknown origin and 4 of the following 5…”
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    Journal Article
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    Evidence-based treatment recommendations for familial Mediterranean fever : A joint statement by the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology by Kallinich, T, Blank, N, Braun, T, Feist, E, Kiltz, U, Neudorf, U, Oommen, P T, Weseloh, C, Wittkowski, H, Braun, J

    Published in Zeitschrift für Rheumatologie (01-02-2019)
    “…Familial Mediterranean fever (FMF) in Germany is a rare, genetically linked disease of childhood and adolescence, which is characterized by recurrent febrile…”
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    Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study by Klinge, L, Straub, V, Neudorf, U, Voit, T

    Published in Neuropediatrics (01-02-2005)
    “…Infantile Pompe disease (IPD) is a fatal, autosomal recessive muscle-wasting disorder. Due to a deficiency of the lysosomal enzyme acid alpha-glucosidase…”
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    Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial by Klinge, L., Straub, V., Neudorf, U., Schaper, J., Bosbach, T., Görlinger, K., Wallot, M., Richards, S., Voit, T.

    Published in Neuromuscular disorders : NMD (01-01-2005)
    “…Pompe disease is an autosomal recessive muscle-wasting disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase. Due to virtual absence…”
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    Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children by Lainka, E., Neudorf, U., Lohse, P., Timmann, C., Bielak, M., Stojanov, S., Huss, K., von Kries, R., Niehues, T.

    Published in Rheumatology international (01-10-2012)
    “…Autoinflammatory diseases (AIDs) are characterized by recurrent, self-limiting systemic inflammation. Disorders include hereditary recurrent fever (HRF)…”
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    Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics by Lainka, Elke, Neudorf, Ulrich, Lohse, Peter, Timmann, Christian, Stojanov, Silvia, Huss, Kristina, von Kries, Rudiger, Niehues, Tim

    Published in Rheumatology (Oxford, England) (01-08-2009)
    “…Objective. TNF receptor 1-associated periodic syndrome (TRAPS) is a rare disease belonging to the heterogeneous group of hereditary periodic fever (HPF)…”
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    G.P.180 by Schoenecker, A, Schelhorn, J, Schlosser, T.W, Neudorf, U, Schara, U

    Published in Neuromuscular disorders : NMD (01-10-2014)
    “…With an incidence of 1:5000 male newborns, Duchenne muscular Dystrophy (DMD) is the most common hereditary muscular disorder. Cardiac involvement (e.g. dilated…”
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    Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population by Lainka, E., Bielak, M., Lohse, P., Timmann, C., Stojanov, S., von Kries, R., Niehues, T., Neudorf, U.

    Published in European journal of pediatrics (01-12-2012)
    “…Familial Mediterranean fever (FMF) is an autoinflammatory disease and belongs to the heterogeneous group of hereditary recurrent fever syndromes (HRFs). Aims :…”
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    Kawasaki-Erkrankung bei Kindern und Jugendlichen by Neudorf, U.

    Published in Zeitschrift für Rheumatologie (01-12-2011)
    “…Zusammenfassung Das Kawasaki-Syndrom (KS) ist eine systemische Vaskulitis unbekannter Ursache. Die Diagnose wird bei unklarem Fieber über 5 Tage und Vorliegen…”
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    Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics by Lainka, E, Neudorf, U, Lohse, P, Timmann, C, Bielak, M, Stojanov, S, Huss, K, von Kries, R, Niehues, T

    Published in Klinische Padiatrie (01-11-2010)
    “…Cryopyrin-associated periodic syndromes (CAPS) are rare disorders belonging to the group of hereditary periodic fever (HPF)syndromes. These auto-inflammatory…”
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    Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study by Jeske, M, Lohse, P, Kallinich, T, Berger, T, Rietschel, C, Holzinger, D, Kamlah, C, Lankisch, P, Berendes, R, Dueckers, G, Horneff, G, Lilienthal, E, Haas, J P, Giese, A, Dressler, F, Berrang, J, Braunewell, L, Neudorf, U, Niehues, T, Föll, D, Lainka, E

    Published in Klinische Padiatrie (01-11-2013)
    “…Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor-…”
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    A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency by Verhoeven, N. M., Wallot, M., Huck, J. H. J., Dirsch, O., Ballauf, A., Neudorf, U., Salomons, G. S., der Knaap, M. S., Voit, T., Jakobs, C.

    Published in Journal of inherited metabolic disease (01-01-2005)
    “…Summary This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient…”
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    Infectious uveitis in infancy: borreliosis, tuberculosis, lues by Ness, T, Pleyer, U, Neudorf, U, Frosch, M

    “…Infectious uveitis caused by Borrelia, tuberculosis or syphilis is a rare condition, even in childhood. Because these diseases can be treated successfully,…”
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    Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes by Neudorf, U, Lainka, E, Kallinich, T, Holzinger, D, Roth, J, Föll, D, Niehues, T

    Published in Zeitschrift für Rheumatologie (01-05-2013)
    “…Genetic fever syndromes or hereditary recurrent fever syndromes (HRF) are considered to be part of the autoinflammatory diseases (AID) which result from errors…”
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