Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

82 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Among authors: chapman ka. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Fraser JL, et al. Among authors: chapman ka. Mol Genet Metab Rep. 2014 Feb 11;1:66-70. doi: 10.1016/j.ymgmr.2013.12.007. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896076 Free PMC article.
Genetic considerations for adults with congenital heart disease.
Ito S, Chapman KA, Kisling M, John AS. Ito S, et al. Among authors: chapman ka. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):149-153. doi: 10.1002/ajmg.c.31777. Epub 2020 Feb 13. Am J Med Genet C Semin Med Genet. 2020. PMID: 32052945 Review.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N. Summerlin ML, et al. Among authors: chapman ka. Am J Med Genet A. 2021 Feb;185(2):500-507. doi: 10.1002/ajmg.a.62000. Epub 2020 Dec 10. Am J Med Genet A. 2021. PMID: 33300687
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA. Armstrong AJ, et al. Among authors: chapman ka. Mol Genet Metab. 2021 May;133(1):71-82. doi: 10.1016/j.ymgme.2021.03.001. Epub 2021 Mar 10. Mol Genet Metab. 2021. PMID: 33741272 Free PMC article.
Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Ekong UD, Reddy S, Yazigi N, Khan K, Kaufman S, Chapman KA, Leon E, Mew NA, Regier D, MacLeod E, Kroemer A, Girlanda R, Hawksworth J, Matsumoto CS, Fishbein TM. Ekong UD, et al. Among authors: chapman ka. Liver Transpl. 2022 Dec;28(12):1947-1950. doi: 10.1002/lt.26526. Epub 2022 Jul 17. Liver Transpl. 2022. PMID: 35689402 No abstract available.
82 results