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Page 1
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB. Daber R, et al. Among authors: chapman ka. Am J Med Genet A. 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. Am J Med Genet A. 2011. PMID: 21998853 Free PMC article.
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Sen K, Burrage LC, Chapman KA, Ginevic I, Mazariegos GV, Graham BH; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Sen K, et al. Among authors: chapman ka. Genet Med. 2023 Feb;25(2):100337. doi: 10.1016/j.gim.2022.11.005. Epub 2022 Dec 19. Genet Med. 2023. PMID: 36534118 Free article. No abstract available.
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Guzman H, Yazdani S, Harmon JL, Chapman KA, Vitola B, Pyle L, McKnight H, Sigal W, Lord K, De Leon DD, Merchant N, Ganetzky R. Guzman H, et al. Among authors: chapman ka. Front Endocrinol (Lausanne). 2023 Nov 1;14:1268135. doi: 10.3389/fendo.2023.1268135. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38027095 Free PMC article.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA, Ullah F, Yahiku ZA, Kodiparthi SV, Kellaris G, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Salpietro V, Striano P, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. Chapman KA, et al. medRxiv [Preprint]. 2024 Jul 1:2024.06.27.24309417. doi: 10.1101/2024.06.27.24309417. medRxiv. 2024. PMID: 39006436 Free PMC article. Preprint.
Survival, Growth, and Reproduction Responses in a Three-Generation Exposure of the Zebrafish (Danio rerio) to Perfluorooctane Sulfonate.
Gust KA, Mylroie JE, Kimble AN, Wilbanks MS, Steward CSC, Chapman KA, Jensen KM, Kennedy AJ, Krupa PM, Waisner SA, Pandelides Z, Garcia-Reyero N, Erickson RJ, Ankley GT, Conder J, Moore DW. Gust KA, et al. Among authors: chapman ka. Environ Toxicol Chem. 2024 Jan;43(1):115-131. doi: 10.1002/etc.5770. Epub 2023 Nov 29. Environ Toxicol Chem. 2024. PMID: 38018867 Free PMC article.
Dental complications in homocystinurias.
Chapman KA, Bartke D, Vogel-Farley V, Cobb M, Chapman M. Chapman KA, et al. Mol Genet Metab Rep. 2023 Aug 14;36:100999. doi: 10.1016/j.ymgmr.2023.100999. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37637152 Free PMC article.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
Vockley J, Burton BK, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman KA, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Rahman S, Ray K, Reineking B, Pisani L, Ramirez AN. Vockley J, et al. Among authors: chapman ka. J Inherit Metab Dis. 2023 Sep;46(5):943-955. doi: 10.1002/jimd.12640. Epub 2023 Jun 19. J Inherit Metab Dis. 2023. PMID: 37276053 Clinical Trial.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
Mütze U, Gleich F, Barić I, Baumgartner M, Burlina A, Chapman KA, Chien YH, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund AM, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert SC, Wagenmakers M, Garbade SF, Kölker S, Boy N. Mütze U, et al. Among authors: chapman ka. J Inherit Metab Dis. 2023 Mar;46(2):220-231. doi: 10.1002/jimd.12572. Epub 2022 Nov 14. J Inherit Metab Dis. 2023. PMID: 36266255 Free PMC article.
78 results