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Kimberly Chapman

Affiliated Organization Employee

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Email [email protected]
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Publications

  • Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Mol Genet Metab. 2019 04; 126(4):397-405.. View in PubMed
  • Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. J Inherit Metab Dis. 2019 03; 42(2):333-352.. View in PubMed
  • Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. Mol Genet Metab Rep. 2018 Jun; 15:106-109.. View in PubMed
  • Propionyl-CoA carboxylase – A review. Mol Genet Metab. 2017 12; 122(4):145-152.. View in PubMed
  • Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med. 2017 12; 19(12):1317-1322. Weinstein V, Tanpaiboon P, Chapman KA , Ah Mew N, Hofherr S . View in PubMed
  • The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project. Ecol Evol. 2017 01; 7(1):145-188.. View in PubMed
  • Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017 01; 40(1):49-74.. View in PubMed
  • Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. Mol Genet Metab. 2016 Mar; 117(3):355-362.. View in PubMed
  • Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016 05; 39(3):341-353.. View in PubMed
  • Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Mol Genet Metab. 2015 Dec; 116(4):226-30.. View in PubMed

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