Whole-exome sequencing uncovered the 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as the cause of lethal in a Vietnamese infant
Metabolic disorders are due to a deficiency of enzymes, which can severely impact health or cause serious complications without treatment. This study aimed to identify the molecular causes of an infant death who had been hospitalized with complicated health problems and metabolism syndrome. Whole-ex...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Open Exploration Publishing Inc.
2025-02-01
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| Цуврал: | Exploration of Endocrine and Metabolic Diseases |
| Нөхцлүүд: | |
| Онлайн хандалт: | https://www.explorationpub.com/uploads/Article/A101423/101423.pdf |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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