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First approved drug for mitochondrial disease raises hopes for more.

• Authors : Leslie M

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/drug therapy ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Drug Approval*

• Source: Science (New York, N.Y.) [Science] 2025 Oct 09; Vol. 390 (6769), pp. 114-115. Date of Electronic Publication: 2025 Oct 09.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic

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PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial disease.

• Authors : Pradhan S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Mito T

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/physiopathology

• Source: Clinical and translational medicine [Clin Transl Med] 2025 Jul; Vol. 15 (7), pp. e70404.Publisher: Wiley Country of Publication: United States NLM ID: 101597971 Publication Model: Print Cited Medium: Internet ISSN: 2001-1326

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Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".

• Authors : Finsterer J; Neurology Department, Neurology & Neurophysiology Center, Vienna 1180, Austria.

• Source: JCEM case reports [JCEM Case Rep] 2025 Jul 01; Vol. 3 (8), pp. luaf127. Date of Electronic Publication: 2025 Jul 01 (Print Publication: 2025).Publisher: Oxford University Press on behalf of the Endocrine Society Country of Publication: England NLM ID: 9918609886906676 Publication Model: eCollection

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Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".

• Authors : John R; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu 632004, India.; Chapla A

• Source: JCEM case reports [JCEM Case Rep] 2025 Jul 01; Vol. 3 (8), pp. luaf128. Date of Electronic Publication: 2025 Jul 01 (Print Publication: 2025).Publisher: Oxford University Press on behalf of the Endocrine Society Country of Publication: England NLM ID: 9918609886906676 Publication Model: eCollection

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Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND-1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes.

• Authors : Stein Q; Natera Inc. Austin Texas USA.; Mascarenhas R

• Source: Clinical case reports [Clin Case Rep] 2025 Apr 15; Vol. 13 (4), pp. e70421. Date of Electronic Publication: 2025 Apr 15 (Print Publication: 2025).Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904

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A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, Canada.

• Authors : Rosella LC; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. .; ICES UofT, ICES, Toronto, Canada. .

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/epidemiology ; Mental Disorders*/Mental Disorders*/Mental Disorders*/epidemiology; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Apr 14; Vol. 20 (1), pp. 177. Date of Electronic Publication: 2025 Apr 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.

• Authors : Xu C; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.; Zhao D

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/economics; Adolescent ; Child

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Apr 10; Vol. 20 (1), pp. 172. Date of Electronic Publication: 2025 Apr 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.

• Authors : Jiang T; Department of Hepatopathy Center, Hunan Children's Hospital, Ziyuan Road 86th, Changsha, 410007, Hunan, P. R. China. .; Ouyang W

Subjects: 3-Hydroxyacyl CoA Dehydrogenases*/3-Hydroxyacyl CoA Dehydrogenases*/3-Hydroxyacyl CoA Dehydrogenases*/genetics ; 3-Hydroxyacyl CoA Dehydrogenases*/3-Hydroxyacyl CoA Dehydrogenases*/3-Hydroxyacyl CoA Dehydrogenases*/metabolism ; Liver Diseases*/Liver Diseases*/Liver Diseases*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 07; Vol. 20 (1), pp. 108. Date of Electronic Publication: 2025 Mar 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.

• Authors : John R; Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore 632004, India.; Chapla A

• Source: JCEM case reports [JCEM Case Rep] 2025 Mar 26; Vol. 3 (4), pp. luaf020. Date of Electronic Publication: 2025 Mar 26 (Print Publication: 2025).Publisher: Oxford University Press on behalf of the Endocrine Society Country of Publication: England NLM ID: 9918609886906676 Publication Model: eCollection

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Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease.

• Authors : Faitg J; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research, Faculty of Medical Sciences, Newcastle University, Newcastle, UK.; Electron Microscopy Research Services, Newcastle University, Newcastle, UK.

Subjects: Electron Transport Complex IV*/Electron Transport Complex IV*/Electron Transport Complex IV*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/pathology ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism

• Source: Communications biology [Commun Biol] 2025 Jan 09; Vol. 8 (1), pp. 24. Date of Electronic Publication: 2025 Jan 09.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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