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• Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

  Paz D, Pinales BE, Castellanos BS, Perez I, Gil CB, Madrigal LJ, Reyes-Nava NG, Castro VL, Sloan JL, Quintana AM. Paz D, et al. Differentiation. 2023 May-Jun;131:74-81. doi: 10.1016/j.diff.2023.04.003. Epub 2023 May 5. Differentiation. 2023. PMID: 37167860 Free PMC article.
• Clinical presentation and outcome in a series of 88 patients with the cblC defect.

  Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Fischer S, et al. J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6. J Inherit Metab Dis. 2014. PMID: 24599607
• Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.

  Petropoulos TE, Ramirez ME, Granton J, Licht C, John R, Moayedi Y, Morel CF, McQuillan RF. Petropoulos TE, et al. Clin Kidney J. 2018 Jun;11(3):310-314. doi: 10.1093/ckj/sfx119. Epub 2017 Oct 26. Clin Kidney J. 2018. PMID: 29942494 Free PMC article.
• Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

  Carrillo-Carrasco N, Chandler RJ, Venditti CP. Carrillo-Carrasco N, et al. J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748409 Free PMC article. Review.
• Overexpression of MMACHC Prevents Craniofacial Phenotypes Caused by Knockdown of znf143b.

  Perez I, Reyes-Nava NG, Pinales BE, Quintana AM. Perez I, et al. Am J Undergrad Res. 2023 Jun;20(1):77-84. doi: 10.33697/ajur.2023.081. Am J Undergrad Res. 2023. PMID: 38617190 Free PMC article.