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K.e. (klary E) Niezen-koning

Professor
Medical Sciences
University of Groningen
Netherlands

Biography

K.E. (Klary E) Niezen-Koning European Clinical Laboratory Geneticist (Biochemist, PhD, ErCLG) Metabolic Diseases,Faculty of Medical Sciences Paediatrics: Paediatrics Hanzeplein 1 9713 GZ Groningen The Netherlands

Research Interest

Paediatrics

Publications

  • Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency Scientific - peer-review › Article

  • Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders Scientific - peer-review › Article

  • Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) Scientific - peer-review › Article

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