Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Barbara Plecko

Showing results (31-40 of 113) with videos related to

Pageof 12
Sort By:
Pediatric Rheumatology Online Journal|August 24, 2017
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutationAndrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, et al.
European Journal of Pediatrics|December 3, 2014
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophyJulia Vodopiutz, Maria T Schmook, Vassiliki Konstantopoulou, et al.
European Journal of Pediatrics|May 17, 2020
Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistulaSabine Marinschek, Karoline Pahsini, Victor Aguiriano-Moser, et al.
JIMD Reports|July 14, 2021
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <i>FOLR1</i> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic dietMaria T Papadopoulou, Efterpi Dalpa, Michalis Portokalas, et al.
Human Mutation|May 20, 2003
Mutation analysis in patients with N-acetylglutamate synthase deficiencyJohannes Häberle, Eva Schmidt, Silke Pauli, et al.
Neuropediatrics|April 9, 2014
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A geneAnnette Hackenberg, Alessandra Baumer, Heinrich Sticht, et al.
Neuropediatrics|July 25, 2019
Neonatal Seizures-Are We there Yet?Georgia Ramantani, Bernhard Schmitt, Barbara Plecko, et al.
Pediatric Research|August 1, 2002
Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopyBarbara Plecko, Sylvia Stoeckler-Ipsiroglu, Edith Schober, 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.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Paul Harmatz, Chester B Whitley, Lewis Waber, et al.
Pageof 12

Showing results (31-40 of 113) with videos related to

Sort By:
Pageof 12
Pediatric Rheumatology Online Journal|August 24, 2017
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutationAndrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M Schmidt, et al.
European Journal of Pediatrics|December 3, 2014
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophyJulia Vodopiutz, Maria T Schmook, Vassiliki Konstantopoulou, et al.
European Journal of Pediatrics|May 17, 2020
Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistulaSabine Marinschek, Karoline Pahsini, Victor Aguiriano-Moser, et al.
JIMD Reports|July 14, 2021
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <i>FOLR1</i> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic dietMaria T Papadopoulou, Efterpi Dalpa, Michalis Portokalas, et al.
Human Mutation|May 20, 2003
Mutation analysis in patients with N-acetylglutamate synthase deficiencyJohannes Häberle, Eva Schmidt, Silke Pauli, et al.
Neuropediatrics|April 9, 2014
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A geneAnnette Hackenberg, Alessandra Baumer, Heinrich Sticht, et al.
Neuropediatrics|July 25, 2019
Neonatal Seizures-Are We there Yet?Georgia Ramantani, Bernhard Schmitt, Barbara Plecko, et al.
Pediatric Research|August 1, 2002
Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopyBarbara Plecko, Sylvia Stoeckler-Ipsiroglu, Edith Schober, 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.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Paul Harmatz, Chester B Whitley, Lewis Waber, et al.
Pageof 12