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Mitochondrial DNA depletion syndrome 1
- ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome 4b ...
- ... neurohepatopathy is estimated to occur in 1 in 1,600 newborns. As the condition name suggests, mutations in the MPV17 gene cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The protein produced from the MPV17 gene is ...
- ... DGUOK deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PubMed Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
- ... frame 2 PEO1 PEO1_HUMAN progressive external ophthalmoplegia 1 protein T7 gp4-like protein with intramitochondrial nucleoid localization T7-like mitochondrial DNA helicase twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK ...
- Mitochondrial Diseases (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ... depletion syndrome National Organization for Rare Disorders (NORD) ... Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
- ... H, Setzer B, Walker UA, Horvath R. Hepatocerebral mitochondrial DNA depletion ... Mol Genet Metab. 2024 Jul 24;143(1-2):108554. doi: 10.1016/j.ymgme.2024. ...
- ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
- Mitochondrial DNA Depletion Syndrome (Alpers' Disease)
(National Institute of Neurological Disorders and Stroke)
Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics - Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Mitochondrial disorders are caused by defects in mitochondria, ...