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Last Updated: 10/31/2025

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Found 3327 publications

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Autosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.

Journal: Internal medicine (Tokyo, Japan)
Published: September 03, 2025

Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".

Response to "Diagnose autosomal recessive Alport syndrome in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected".

Journal: Internal medicine (Tokyo, Japan)
Published: September 03, 2025

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.

Journal: International journal of molecular sciences
Published: August 12, 2025

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Isolated cytochrome c oxidase deficiency as a cause of MELAS.

Journal: BMJ case reports
Published: August 08, 2025

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Journal: International journal of molecular sciences
Published: July 29, 2025

From stroke workup to mitochondrial disease: A case report of MELAS.

From stroke workup to mitochondrial disease: A case report of MELAS.

Journal: Radiology case reports
Published: July 24, 2025

A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

Journal: Rinsho shinkeigaku = Clinical neurology
Published: July 24, 2025

Neuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Authors' Reply.

Neuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Authors' Reply.

Journal: Indian journal of pediatrics
Published: July 18, 2025

Diagnosing Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome in a Young Adult Female Patient With Seizures and Lactic Acidosis.

Diagnosing Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome in a Young Adult Female Patient With Seizures and Lactic Acidosis.

Journal: Cureus
Published: July 15, 2025

A case of mitochondrial encephalomyopathy remarkable presenting with refractory shock.

A case of mitochondrial encephalomyopathy remarkable presenting with refractory shock.

Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Published: July 08, 2025

Neuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis with Stroke-Like Episodes (MELAS): Correspondence.

Neuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis with Stroke-Like Episodes (MELAS): Correspondence.

Journal: Indian journal of pediatrics
Published: July 04, 2025

Health-Related Education for New Immigrants to Prevent Chronic Diseases: A Systematic Review.

Health-Related Education for New Immigrants to Prevent Chronic Diseases: A Systematic Review.

Journal: Journal of immigrant and minority health
Published: July 04, 2025
Showing 1-12 of 3,327

Last Updated: 10/31/2025