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Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.
Mol Genet Metab Rep. 2020 Jun 5;24:100608. doi: 10.1016/j.ymgmr.2020.100608. eCollection 2020 Sep.
Mol Genet Metab Rep. 2020.
PMID: 32528852
Free PMC 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.
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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.
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Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
Chapel-Crespo CC, Lala S, Prasun P.
Chapel-Crespo CC, et al.
Pediatr Neurol. 2017 Oct;75:101-102. doi: 10.1016/j.pediatrneurol.2017.05.002. Epub 2017 May 8.
Pediatr Neurol. 2017.
PMID: 28784285
No abstract available.
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Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.
Chapel-Crespo CC, Diaz GA, Oishi K.
Chapel-Crespo CC, et al.
Expert Rev Endocrinol Metab. 2016;11(6):467-473. doi: 10.1080/17446651.2016.1239526. Epub 2016 Sep 28.
Expert Rev Endocrinol Metab. 2016.
PMID: 30034506
Free PMC article.
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