S. Wortmann

发表论文 200 篇 · 总被引 6460 次 · h-index 48

代表论文

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. (2022 · Genetics in Medicine · 被引 60)
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors (2023 · Diagnostics · 被引 35)
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights (2022 · Journal of Clinical Endocrinology and Metabolism · 被引 28)
Genetic landscape of pediatric acute liver failure of indeterminate origin (2023 · Hepatology · 被引 27)
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties (2023 · Annals of Neurology · 被引 20)
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. (2022 · Genetics in Medicine · 被引 19)