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Kimberly Chapman

Affiliated Organization Employee

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Email [email protected]
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Publications

  • A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. Mol Genet Metab. 2021 05; 133(1):71-82.. View in PubMed
  • Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021 05; 44(3):566-592.. View in PubMed
  • Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Am J Med Genet A. 2021 02; 185(2):500-507.. View in PubMed
  • Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study. J Inherit Metab Dis. 2021 01; 44(1):253-263.. View in PubMed
  • Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431.. View in PubMed
  • Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Mol Genet Metab. 2020 07; 130(3):183-196.. View in PubMed
  • Genetic considerations for adults with congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):149-153.. View in PubMed
  • Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. Mol Genet Metab. 2019 12; 128(4):444-451.. View in PubMed
  • Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. PLoS One. 2019; 14(3):e0214250.. View in PubMed
  • Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. J Inherit Metab Dis. 2019 11; 42(6):1162-1175.. View in PubMed

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