A clinical case in pediatric practice: mitochondrial DNA depletion syndrome, type 2 (myopathic form)
The paper discusses the diagnosis and treatment of mitochondrial DNA depletion syndrome (MDS), which is associated with a defect in the thymidine kinase 2 (TK2) gene. Despite the expansion of neonatal screening (up to 36 diseases, with plans to increase it to 62), the detection of MDS requires expen...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , |
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| Formáid: | Artigo |
| Teanga: | Russo |
| Foilsithe / Cruthaithe: |
Yakut Science Center of Complex Medical Problems
2026-06-01
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| Sraith: | Якутский медицинский журнал |
| Ábhair: | |
| Rochtain ar líne: | https://ymj.elpub.ru/jour/article/view/3336 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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