An infant with glutaric aciduria type IIc diagnosed with a novel mutation
Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month-old female patient presented with respira...
Gorde:
| Egile Nagusiak: | , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Hacettepe University Institute of Child Health
2017-06-01
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| Saila: | The Turkish Journal of Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | https://turkjpediatr.org/article/view/992 |
| Etiketak: |
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