• Publications
  • Influence
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
TLDR
Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Expand
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
TLDR
The proposed screening strategy is feasible and effective to identify moderate and severe cases of vitamin B12 deficiency and stresses the need for increased awareness of vitaminB12 deficiency in caregivers of pregnant women. Expand
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
TLDR
Non-interventional variables of disease severity, such as age at disease onset and peak ammonium level of the initial hyperammonemic crisis (cut-off level: 500 μmol/L) best predicted the neurological outcome of UCD patients. Expand
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
TLDR
The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs. Expand
Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland
TLDR
Comparison with the European registry and network for intoxication type metabolic diseases (E-IMD) demonstrated that cross-national surveillance identified a higher number of clinically severe UCD patients characterized by earlier onset of symptoms, higher peak ammonium concentrations in plasma and higher mortality. Expand
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
TLDR
L-pipecolate is a major degradation product from L-lysine in murine brain generated by α-deamination of this amino acid. Expand
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
TLDR
Combined analysis of databases drawn from distinct populations opens the possibility to increase sample sizes for natural history questions, while comparative analysis utilising differences in approach to treatment can evaluate therapeutic options and enhance long-term outcome studies. Expand
Early prediction of phenotypic severity in Citrullinemia Type 1
TLDR
This work aimed to design a reliable disease prediction model for Citrullinemia type 1 which is detectable by newborn screening and has the potential to predict phenotypic severity early during the disease course. Expand
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
TLDR
The impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium and the European registry and network for Intoxication type Metabolic Diseases is studied. Expand
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
TLDR
To improve the understanding of urea cycle disorders, two patient cohorts prospectively followed by two North American (NA) and European (EU) patient cohorts are studied. Expand
...
1
2
...