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  • 1-10 ل  547 نتائج ل ""Mitochondrial disease""

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Subject : humans
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Academic Journal

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

Subjects: Male; Mitochondrial Diseases; 17-Hydroxysteroid Dehydrogenases

  • Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

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Academic Journal

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

Subjects: Male; China; Mitochondrial Diseases

  • Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-9 (2025)

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Academic Journal

TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study

Subjects: Mitochondrial epilepsy; Adult; Male

  • Source: BMC NeurolBMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

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Academic Journal

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

Subjects: mitochondrial disease; mtDNA; nDNA

  • Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)Orphanet journal of rare diseases., London : BMC, 2023, vol. 18, art. no. 307, p. 1-10.

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Academic Journal

Reduced mitochondrial respiratory capacity in patients with acute episodes of bipolar disorder: Could bipolar disorder be a state‐dependent mitochondrial disease?

Subjects: Oxygen; Mania; Bipolar Disorder

  • Source: Acta Psychiatrica Scandinavica. 149:52-64

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Academic Journal

Identification of peripheral vascular function measures and circulating biomarkers of mitochondrial function in patients with mitochondrial disease

Subjects: Mitochondrial Diseases; Research; RM1-950

  • Source: Clin Transl SciClinical and Translational Science, Vol 16, Iss 7, Pp 1258-1271 (2023)

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Academic Journal

Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

Subjects: Inherited renal disease; Hypoaldosteronism/genetics [MeSH]; Humans [MeSH]

  • Source: Pediatr NephrolPediatric Nephrology, 39, 1, pp. 125-129

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Academic Journal

Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series

Subjects: 0301 basic medicine; 0303 health sciences; Mitochondrial Diseases

  • Source: International Journal of Neuroscience. 130:1272-1277

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Academic Journal

The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence

Subjects: 0301 basic medicine; Mitochondrial Diseases; Immunity

  • Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

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Academic Journal

Comprehensive profiling of the human viral exposome in households containing an at‐risk child with mitochondrial disease during the 2020–2021 COVID‐19 pandemic

Subjects: 0301 basic medicine; Medicine (General); 0303 health sciences

  • Source: Clin Transl MedClinical and Translational Medicine, Vol 12, Iss 11, Pp n/a-n/a (2022)

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  • 1-10 ل  547 نتائج ل ""Mitochondrial disease""