Anja Penkl

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 4

Top Topics

Cerebrospinal Fluid

Chronic Kidney Disease

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Maximilian Penkl, Johannes Adalbert Mayr, René Günther Feichtinger, Ralf Reilmann, Otfried Debus, Manfred Fobker, Anja Penkl, Janine Reunert, Stephan Rust, Thorsten Marquardt
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency. Metabolites 14 (4) (2024)
Anja Penkl, Janine Reunert, Otfried M Debus, Anna Homann, Ulrike Och, Stephan Rust, Thorsten Marquardt
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy. American journal of medical genetics. Part A (2021)