Nastassja Himmelreich

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

Sven F. Garbade, Nan Shen, Nastassja Himmelreich et al. · Genetics in Medicine · 2018 · 87 citations · Full text

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Energy Metabolism, Signal Transduction, G Protein-coupled Receptor +13

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht et al. · Journal of Medical Genetics · 2017 · 51 citations · Full text

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria

Nastassja Himmelreich, Nan Shen, Jürgen G. Okun et al. · Molecular Genetics and Metabolism · 2018 · 43 citations

Biosynthesis, Urology, Biochemistry +8

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen et al. · Molecular Genetics and Metabolism · 2018 · 33 citations · Full text

Metabolic Syndrome, Cutis Laxa, New Patient +12