Corinne Gemperle-Britschgi

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Genetics, Molecular Genetics +17

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Sarah C. Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt et al. · Molecular Genetics and Metabolism · 2017 · 49 citations

Life Sciences, Biochemistry, Endocrinology +6

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

Stephanie Oerum, Martine Roovers, Michael Leichsenring et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2017 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

Sarah C. Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter et al. · Molecular Genetics and Metabolism · 2017 · 27 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +6