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Children (Basel, Switzerland)|March 29, 2023
Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature ReviewMichael P Schittkowski, Sabine Naxer, Mohamed Elabbasy, et al.
Biology Open|April 17, 2020
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microgliaThomas Weber, Lars Schlotawa, Roland Dosch, et al.
Annals of Neurology|January 23, 2015
Extensive acute axonal damage in pediatric multiple sclerosis lesionsSabine Pfeifenbring, Reem F Bunyan, Imke Metz, et al.
Blood Purification|September 12, 2013
Therapeutic apheresis in pediatric patients with acute CNS inflammatory demyelinating diseaseMichael Koziolek, Johannes Mühlhausen, Tim Friede, et al.
Cell Cycle (Georgetown, Tex.)|April 23, 2016
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesisVincent J Guen, Carly Gamble, Dahlia E Perez, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|October 19, 2007
Common infectious agents in multiple sclerosis: a case-control study in childrenBernd Krone, Daniela Pohl, Kevin Rostasy, et al.
American Journal of Human Genetics|September 8, 2009
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolismRobert Steinfeld, Marcel Grapp, Ralph Kraetzner, et al.
Journal of Inherited Metabolic Disease|January 11, 2024
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approachSteffi Dreha-Kulaczewski, Prativa Sahoo, Matthias Preusse, et al.
Molecular and Cellular Pediatrics|August 30, 2025
The German Center for Child and Adolescent Health - A new structure for translational research in pediatrics shaping the health of children today and future generationsKlaus-Michael Debatin, Jutta Gärtner, Christoph Klein, et al.
Mitochondrion|January 14, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1Matthias Kettwig, Max Schubach, Franz A Zimmermann, et al.
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