Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Volker Schuster"'
Publikováno v:
Journal of Clinical Immunology. 38:450-453
Autor:
Volker Schuster
Publikováno v:
HNO Nachrichten. 48:40-40
Autor:
Volker Schuster, Jan-Inge Henter, Itziar Astigarraga, Alfons Meindl, Anna Porwit-MacDonald, Boris Hügle
Publikováno v:
European Journal of Pediatrics. 166:589-593
X-linked lymphoproliferative disease is a rare T and NK cell immune deficiency which most frequently presents as fulminant infectious mononucleosis following infection with the Epstein-Barr virus (EBV). We report the case of a 4-year-old boy from a S
Autor:
Matthias Knuepfer, Ferdinand Pulzer, Gert Matthijs, Werner Siekmeyer, Vera Noelle, Volker Schuster, C. Vogtmann
Publikováno v:
European Journal of Pediatrics. 164:223-226
Of the congenital disorder of glycosylation (CDG) syndromes, type 1a is the most common. CDG 1a is a multisystem disorder with a wide clinical spectrum. We report on a term newborn with a severe and fatal clinical course of CDG 1a syndrome. Skin fibr
Publikováno v:
Journal of Clinical Immunology. 22:244-251
X-linked agammaglobulinemia (XLA) is caused by mutations in the gene encoding the cytoplasmic Bruton's tyrosine kinase (Btk). Btk has been shown to play an essential role in the development of B1 (CD5+) and conventional circulating mature B cells (B2
Autor:
Volker Schuster
Publikováno v:
Pädiatrie. 22:312-314
Die kongenitale Infektion mit humanem Zytomegalievirus ist mit 0,2–1% aller Lebendgeburten weiterhin die haufigste angeborene Virusinfektion. Eine Therapie ist nur bedingt moglich. An neuen Optionen zur Prophylaxe und Therapie wahrend der Schwanger
Publikováno v:
Journal of Molecular Medicine. 76:715-719
Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT). Galactose restriction normalizes these acute symptoms;
Autor:
med. Volker Schuster
Publikováno v:
HNO Nachrichten. 46:36-36
Publikováno v:
European Journal of Pediatrics. 152:185-189
We examined a German family with five members affected by Albright hereditary osteodystrophy (AHO). The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, short stature
Autor:
Volker Schuster, Hans Konrad Müller-Hermelink, A. C. Feller, N. Müller-Lantzsch, Dieter Neumann-Haefelin, Hans Wolfgang Kreth, H. I. Huppertz, Helga Wiegand
Publikováno v:
European Journal of Pediatrics. 150:48-53
We report on a 30-month-old previously healthy Turkish boy who presented with fever, hepatosplenomegaly and generalized lymphadenopathy. He died 4 months after admission in spite of treatment with steroids, acycloguanosine and cyclophosphamide. Epste