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Clinical presentation and outcome in a series of 88 patients with the cblC defect.
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
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M; MetabERN collaboration group.
Heard JM, et al.
Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5.
Orphanet J Rare Dis. 2020.
PMID: 31907071
Free PMC article.
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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ, Adant I, Windmolders P, Vander Elst I, Felgueira C, Altassan R, Gruenert SC, Ghesquière B, Witters P, Cassiman D, Vermeersch P.
Bird MJ, et al. Among authors: gruenert sc.
Metabolites. 2019 Oct 10;9(10):220. doi: 10.3390/metabo9100220.
Metabolites. 2019.
PMID: 31658717
Free PMC article.
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