Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation. Affected patients can be divided into two broad groups, as early-onset and late-on...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hacettepe University Institute of Child Health
2013-12-01
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| Edice: | The Turkish Journal of Pediatrics |
| On-line přístup: | https://turkjpediatr.org/article/view/1568 |
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