Dorothea Haas

Semisynthetic sensor proteins enable metabolic assays at the point of care

Qiuliyang Yu, Lin Xue, Julien Hiblot et al. · Science · 2018 · 162 citations · Full text

Engineering, Biochemistry, Bioengineering +17

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

Sacha Ferdinandusse, Panagiotis Kostopoulos, Simone Denis et al. · The American Journal of Human Genetics · 2006 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Inborn Errors of Cholesterol Biosynthesis

Dorothea Haas, Richard I. Kelley · 2006 · 115 citations

Life Sciences, Biochemistry, Genetics +14

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

P. Smits, Ann Saada, Saskia B. Wortmann et al. · European Journal of Human Genetics · 2010 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

Viola Prietsch, Ertan Mayatepek, H. Krastel et al. · PEDIATRICS · 2003 · 98 citations

Medicine, Biochemistry, Pediatrics +10