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Page 1
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.
Continuation of pegvaliase treatment during pregnancy: A case report.
Boyer M, Skaar J, Sowa M, Tureson JR, Chapel-Crespo CC, Chang R. Boyer M, et al. Among authors: chapel crespo cc. Mol Genet Metab Rep. 2021 Jan 27;26:100713. doi: 10.1016/j.ymgmr.2021.100713. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33552907 Free PMC article.
Skin lesions in a patient with Cobalamin C disease in poor metabolic control.
Prasun P, Chapel-Crespo C, Williamson A, Chu P, Oishi K, Diaz G. Prasun P, et al. Among authors: chapel crespo c. J Inherit Metab Dis. 2018 Mar;41(2):279-280. doi: 10.1007/s10545-017-0102-y. Epub 2017 Nov 2. J Inherit Metab Dis. 2018. PMID: 29098535 Free PMC article. No abstract available.