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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive

MedGen UID:
501780
Concept ID:
C3501372
Disease or Syndrome
 

Recent clinical studies

Etiology

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group.
Mitochondrion 2013 Jul;13(4):337-41. Epub 2013 Apr 11 doi: 10.1016/j.mito.2013.04.001. PMID: 23583954
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A
Mol Genet Metab 2012 Nov;107(3):409-15. Epub 2012 Aug 31 doi: 10.1016/j.ymgme.2012.08.018. PMID: 22980518

Diagnosis

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group.
Mitochondrion 2013 Jul;13(4):337-41. Epub 2013 Apr 11 doi: 10.1016/j.mito.2013.04.001. PMID: 23583954
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A
Mol Genet Metab 2012 Nov;107(3):409-15. Epub 2012 Aug 31 doi: 10.1016/j.ymgme.2012.08.018. PMID: 22980518

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