Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Genomics and Rare Diseases, Folate and B Vitamins Research, and Mitochondrial Function and Pathology.
Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening
Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany
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 study
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Vitamin B12 Deficiency Newborn Screening
Elevated Soluble ACE2 Activity in Children and Adults After SARS‐CoV‐2 Exposure Irrespective of Laboratory‐Confirmed Infection
Genetic landscape of pediatric acute liver failure of indeterminate origin
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Live‐virus neutralization of the omicron variant in children and adults 14 months after SARS‐CoV‐2 wild‐type infection
Waning Immunity 14 Months After SARS-CoV-2 Infection
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May–August 2020
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The Genetic Landscape and Epidemiology of Phenylketonuria
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal
Issues with European guidelines for phenylketonuria
Abstracts of the 52nd Workshop for Pediatric Research