Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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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 awar...
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Full title
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
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TN_cdi_doaj_primary_oai_doaj_org_article_b96932ad7792403a9d381d0df9f55ab7
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b96932ad7792403a9d381d0df9f55ab7
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02179-y
