Results 21 to 30 of about 6,956 (184)

COQ8A-related Primary Coenzyme Q10 Deficiency Mimicking Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Syndrome: A Pediatric Case Report and Review of Mitochondrial Mimics [PDF]

Ann Afr Med
Suram Bharath Reddy, Avinash Daru, Vineeta Pande, Shiji Chalipat, Pachipulusu Bala Venkata Subrrahmanya Sai   +4 more
openalex   +2 more sources

Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy [PDF]

Front Neurol
John Sieh Dumbuya, Chuan Tian, Linhong Deng, Bashir Ahmad, Xiuling Chen, Jun Lü   +5 more
openalex   +2 more sources

Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases

Вопросы современной педиатрии, 2021
Background. Defects in pyruvate dehydrogenase complex (PDC), involved in the glycolysis products integration into the cells' energy metabolism, are one of the reasons of mitochondrial pathology development.
Ekaterina A. Nikolaeva, Svetlana Ya. Volgina, Chulpan D. Khaliullina, Sergey V. Bochenkov, Maria A. Danceva   +4 more
doaj   +1 more source

SAT-542 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke Like Symptoms - a rare cause of diabetes mellitus. [PDF]

J Endocr Soc
Emma Triantafyllou, Maeve Williams, Mercedes Cardenas Ona, Parvathy Madhavan   +3 more
openalex   +2 more sources

Acute Management of Neurological Events in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome: A Case Report [PDF]

Cureus
Zaza Aladashvili, Thalia B Rodriguez, Guillermo Izquierdo-Pretel   +2 more
openalex   +2 more sources

Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures [PDF]

Neurology
Luca Bergonzini, Sara Carli, Silvia Pelle, Ilaria Pettenuzzo, Silvia Bonetti, Erika Santi, Caterina Visconti, Monica Maffei, M.R. Sheremet, Eleonora Lamantea, Andrea Marsala, Olena Klub, Valentina Gentile, Duccio Maria Cordelli, Caterina Garone   +14 more
openalex   +2 more sources

A patient with MELAS syndrome combined with autoimmune abnormalities: a case report

Frontiers in Neurology, 2023
BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis ...
Mingmin Zhao, Mingmin Zhao, Chun Zuo, Chun Zuo, Hongyu Hao, Hongyu Hao, Xing Xing, Xing Xing, Lei Zhao, Lei Zhao, Na Li, Na Li   +11 more
doaj   +1 more source

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

BioMedica, 2020
Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu   +5 more
doaj   +1 more source

Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design [PDF]

Brain Commun
Renae J. Stefanetti, Sarah J. Charman, Jane H. Newman, Kate Hallsworth, Alasdair P. Blain, Yi Shiau Ng, Gráinne S. Gorman   +6 more
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A case of mitochondrial encephalomyopathy remarkable presenting with refractory shock. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Yang Liao, Daomiao Xu, Li Li
openalex   +2 more sources