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Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
BACKGROUND: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. Initial case reports suggested that patients may have severe intellectual disability and megaloblastic anemia. Howeve...
Uloženo v:
| Vydáno v: | J Inherit Metab Dis |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6279618/ https://ncbi.nlm.nih.gov/pubmed/30740726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12035 |
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