Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. Kalantari, S., Brezzi, B., Bracciamà, V., Barreca, A., Nozza, P., Vaisitti, T., Amoroso, A., Deaglio, S., Manganaro, M., Porta, F., & Spada, M. Orphanet Journal of Rare Diseases, 17(1):33, February, 2022. ![Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex 6 downloads Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being a well-recognized disease for pediatricians, there is scarce awareness of its adult presentation. A thorough analysis and discussion of cobalamin C defect presentation in adult patients has never been extensively performed. This article reviews the published data and adds a new case of the latest onset of symptoms ever described for the disease.
@article{kalantari_adult-onset_2022,
title = {Adult-onset {CblC} deficiency: a challenging diagnosis involving different adult clinical specialists},
volume = {17},
issn = {1750-1172},
shorttitle = {Adult-onset {CblC} deficiency},
url = {https://doi.org/10.1186/s13023-022-02179-y},
doi = {10.1186/s13023-022-02179-y},
abstract = {Methylmalonic aciduria and homocystinuria, CblC type (OMIM \#277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being a well-recognized disease for pediatricians, there is scarce awareness of its adult presentation. A thorough analysis and discussion of cobalamin C defect presentation in adult patients has never been extensively performed. This article reviews the published data and adds a new case of the latest onset of symptoms ever described for the disease.},
language = {en},
number = {1},
urldate = {2022-02-11},
journal = {Orphanet Journal of Rare Diseases},
author = {Kalantari, Silvia and Brezzi, Brigida and Bracciamà, Valeria and Barreca, Antonella and Nozza, Paolo and Vaisitti, Tiziana and Amoroso, Antonio and Deaglio, Silvia and Manganaro, Marco and Porta, Francesco and Spada, Marco},
month = feb,
year = {2022},
keywords = {Alamut},
pages = {33},
}
Downloads: 6
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