Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation attacks. Case. Herein we report a patient dia...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hacettepe University Institute of Child Health
2022-10-01
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| Edice: | The Turkish Journal of Pediatrics |
| Témata: | |
| On-line přístup: | https://turkjpediatr.org/article/view/231 |
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