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...
| Published in: | The Turkish Journal of Pediatrics |
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| Main Authors: | , , |
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2017-06-01
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| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/992 |