Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis
Abstract Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel mutation. Methods Tandem mass spectrome...
Uloženo v:
| Hlavní autoři: | , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMC
2025-09-01
|
| Edice: | Orphanet Journal of Rare Diseases |
| Témata: | |
| On-line přístup: | https://doi.org/10.1186/s13023-025-03723-2 |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|