Kimberly Chapman

Affiliated Organization Employee

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Publications

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls. Mol Genet Metab. 2015 Aug; 115(4):174-9.. View in PubMed
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov; 38(6):1041-57.. View in PubMed
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov; 38(6):1059-74.. View in PubMed
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 02; 96(4):675-81.. View in PubMed
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 02; 9:130.. View in PubMed
Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab. 2013 Apr; 108(4):203-5.. View in PubMed
Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5.. View in PubMed
Acute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25.. View in PubMed
Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9.. View in PubMed
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33.. View in PubMed