P. Guder

发表

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

D. Zafeiriou, G. Horvath, G. Hoffmann, 2022, Annals of neurology.

Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause

U. Löbel, B. Fiebig, A. Berger, 2021 .

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26.

P. Pagel, S. Gersting, R. Ensenauer, 2019, Biochimica et biophysica acta. Molecular cell research.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

K. Nave, W. Möbius, J. Denecke, 2019, Acta Neuropathologica.

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

H. Waterham, S. Gersting, J. Schmiesing, 2021, Frontiers in Genetics.

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

I. Harting, D. Zafeiriou, J. Friedman, 2021, Journal of inherited metabolic disease.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

F. Eichler, J. Denecke, M. Hempel, 2021, Orphanet Journal of Rare Diseases.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

R. Zimmer, C. Friedel, S. Gersting, 2021, Journal of proteome research.