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...
Kaydedildi:
| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Open Exploration Publishing Inc.
2025-02-01
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| Seri Bilgileri: | Exploration of Endocrine and Metabolic Diseases |
| Konular: | |
| Online Erişim: | https://www.explorationpub.com/uploads/Article/A101423/101423.pdf |
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