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Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients
RATIONALE: Holocarboxylase synthetase (HCLS) deficiency, especially the late-onset type, is a rare disease. Affected patients can present with irreversible metabolic acidosis and may be misdiagnosed with a glucose metabolic disorder. Prompt and correct diagnosis and treatment can reduce mortality to...
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| Publicado no: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7440356/ https://ncbi.nlm.nih.gov/pubmed/32358368 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000019964 |
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