Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy

Extreme hyperhomocysteinemia with low cystathionine and cysteine is virtually diagnostic of cystathionine beta-synthase (CBS) deficiency since remethylation defects and hypermethioninemia due to other inborn errors cause elevated serum cystathionine. However, a pregnant CBS deficient patient was fou...

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Udgivet i:JIMD Rep
Main Authors: Stabler, Sally P., Freehauf, Cynthia, Allen, Robert H., Thomas, Janet, Gallagher, Renata
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740052/
https://ncbi.nlm.nih.gov/pubmed/28275971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_15
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