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...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hacettepe University Institute of Child Health
2017-06-01
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| Edice: | The Turkish Journal of Pediatrics |
| Témata: | |
| On-line přístup: | https://turkjpediatr.org/article/view/992 |
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