Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

BACKGROUND: Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase‐cyclodeaminase (FTCD) deficiency,...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Majumdar, Ramanath, Yori, Andrew, Rush, Peggy W., Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Feldman, Gerald L., Oglesbee, Devin
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
Clinical Reports
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702579/
https://ncbi.nlm.nih.gov/pubmed/29178637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.333
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