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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Metabolites. 2019 Oct 10;9(10):220. doi: 10.3390/metabo9100220.
Metabolites. 2019.
PMID: 31658717
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. Among authors: gruenert sc.
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
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