Search Results - "Neudorf, U."
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Update of the evidence based, interdisciplinary guideline for anti-inflammatory treatment of uveitis associated with juvenile idiopathic arthritis
Published in Seminars in arthritis and rheumatism (01-08-2019)“…Uveitis in juvenile idiopathic arthritis (JIAU) is frequently associated with the development of complications and visual loss. Topical corticosteroids are the…”
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Kawasaki disease in children and adolescents
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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IL-6 blockade in systemic juvenile idiopathic arthritis - achievement of inactive disease and remission (data from the German AID-registry)
Published in Pediatric rheumatology online journal (05-04-2018)“…Systemic juvenile idiopathic arthritis (sJIA) is a complex disease with an autoinflammatory component of unknown etiology related to the innate immune system…”
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Evidence-based, interdisciplinary guidelines for anti-inflammatory treatment of uveitis associated with juvenile idiopathic arthritis
Published in Rheumatology international (01-05-2012)“…Uveitis in juvenile idiopathic arthritis (JIA) is frequently associated with the development of complications and visual loss. Topical corticosteroids are the…”
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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
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
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
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
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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Updated recommendations for action according to the S2k guidelines on Kawasaki syndrome
Published in Monatsschrift Kinderheilkunde (2022)Get full text
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Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics
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
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
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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Atypical clinical presentation of a severe Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) without mutation in the TNFRSF1A gene and good response to anakinra. Case report of a ten year old girl with fever, skin edema and abdominal pain (AID-registry)
Published in Pediatric rheumatology online journal (28-09-2015)Get full text
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Kawasaki-Erkrankung bei Kindern und Jugendlichen
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
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
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
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
Published in Klinische Monatsblätter für Augenheilkunde (01-06-2007)“…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
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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