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Clinical Chemistry|January 21, 2006
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB geneAnibh M Das, Sabine Illsinger, Thomas Lücke, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|January 13, 2010
Preeclampsia and HELLP syndrome: impaired mitochondrial function in umbilical endothelial cellsSabine Illsinger, Nils Janzen, Stefanie Sander, et al.
European Journal of Medical Genetics|August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.
Leukemia|March 14, 2021
Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemiaMartin Stanulla, Elke Schaeffeler, Anja Möricke, et al.
Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.
The Lancet. Child & Adolescent Health|November 10, 2021
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort studyClaudia Weiß, Andreas Ziegler, Lena-Luise Becker, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
Journal of Neuromuscular Diseases|December 4, 2022
Newbornscreening SMA - From Pilot Project to Nationwide Screening in GermanyWolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, et al.
Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
Journal of Neuromuscular Diseases|November 24, 2025
Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland-part I-systematic literature review and existing evidenceClaudia Weiß, Katharina Vill, Matthias Baumann, et al.
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