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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
BACKGROUND: The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the heterogeneous clinical picture, patients with the late-onset form of the disease (o...
में बचाया:
| में प्रकाशित: | Orphanet J Rare Dis |
|---|---|
| मुख्य लेखकों: | , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2014
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4255922/ https://ncbi.nlm.nih.gov/pubmed/25398587 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0161-1 |
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