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Muscle & Nerve|June 27, 2015
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experienceKarin Pichler, Sabine Scholl-Buergi, Robert Birnbacher, et al.
Hormone Research in Paediatrics|October 21, 2021
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement TherapyAdalbert Raimann, Christine Haberler, Janina Patsch, et al.
Clinical Pediatrics|February 28, 2002
Self-concept in male and female adolescents with congenital heart diseaseUlrike Salzer-Muhar, Marion Herle, Peter Floquet, et al.
Seizure|July 6, 2010
Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experienceAnastasia Dressler, Benjamin Stöcklin, Eva Reithofer, et al.
Developmental Medicine and Child Neurology|February 18, 2014
Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeMichael Freilinger, Michael Böhm, Ines Lanator, et al.
Research in Developmental Disabilities|April 27, 2023
Learning about neurodiversity from parents - Auditory gestalt perception of prelinguistic vocalisationsDajie Zhang, Sigrun Lang, Bernd Wilken, et al.
Frontiers in Immunology|January 6, 2022
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A MutationJolanda Steininger, Raphael Rossmanith, Christoph B Geier, et al.
Clinical & Developmental Immunology|November 24, 2004
Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomyYonatan Ganor, Hadassa Goldberg-Stern, Dina Amrom, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|April 30, 2003
Hemolytic-uremic syndrome associated with enterohemorrhagic Escherichia coli O26:H infection and consumption of unpasteurized cow's milkFranz Allerberger, Alexander W Friedrich, Katharina Grif, et al.
Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.
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