Recent & Upcoming Talks

2023

Potential und Risiken eines Genomscreenings

The history of newborn screening spans more than 60 years, originating with the development of a universal screening test for …

Genomic R(E)volution in Newborn Screening Tracing the Past Shaping the Future

The history of newborn screening spans more than 60 years, originating with the development of a universal screening test for …

Genomische Neugeborenenscreening-Programme international - aktueller Stand

Im Rahmen der 49. Jahrestagung der Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin werde ich über den aktuellen Stand …

Chancen und Herausforderungen des Genomischen Neugeborenenscreenings

Im Rahmen der Jahrestagung der Deutschen Gesellschaft für Neugeborenenscreening werde ich über die Chancen und die Herausforderungen …

2022

AADC-Mangel Diagnostik und Therapie

PTC AADC Awareness Academy.

The value of peripheral markers for the detection of central diseases and newborn screening opportunities

PTC AADC Awareness Academy.

2021

AADC deficiency New technologies to help improve screening

PTC AADC Deficiency Master Class.

2020

AADC deficiency New technologies to help improve screening

PTC AADC Deficiency Master Class.

The Quantification of 3-O-Methyldopa in Dried Blood Spots Enables High-Throughput Newborn Screening for Aromatic L-Amino Acid Decarboxylase Deficiency

34th Annual Conference of the Arbeitsgemeinschaft für Pädiatrische Stofwechselstörungen (APS; Association for pediatric metabolic …

2019

Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a model of Succinic Semialdehyde Dehydrogenase Deficiency

SSIEM Annual Symposium 2019 Rotterdam, The Netherlands.

The use of patient-derived induced pluripotent stem cells (iPSCS) and iPSC-derived cerebral organoids to explore pathomechanisms of succinic semialdehyde dehydrogenase deficiency

33rd Annual Conference of the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (Association for pediatric metabolic …