… In this study, we utilized comprehensive metabolic analyses and whole-exome sequencing
… patients with rare inborn errors of cbl metabolism, a boy with cblG defect and a girl with cblJ …

… [16], our patient showed chronic thrombotic microangiopathic … metabolism and folate pathway,
specifically: ABCD4 (CblJ disease, … was performed based on a clinical exome sequencing …

… is an inborn error of intracellular cobalamin metabolism and … , progressive cognitive
decline, brain MRI may reveal … 31 patients were treated with other molecules of vitamin B12 (…

… Precise diagnosis of the inborn errors of Cbl metabolism … Six patients have been reported
with the cblJ disorder. The … Exome sequencing of a male patient with a diagnosis of cblC …

… Inborn errors affecting cobalamin uptake or metabolism are … cblD, cblF and cblJ). A series of
disorders caused by pathogenic variant … and novel mutation revealed by exome sequencing …

… GeneReview describes inborn errors of cobalamin metabolism, … that defines cobalamin
groups AJ (cblA - cblJ). The name of each … Exome sequencing is most commonly used; genome …

… In 3 different patients, the analysis has revealed pathogenic … are reliable for the diagnosis
of patients with inborn errors of cobalamin … , designated cblA-cblG, cblJ, and cblX, have been …

… and cblJ patients suggests a common mechanism in the MMA-HCU group, acting upstream
of vitamin B12-… in our review showed that the visual outcome in MMA-HCU patients identified …

… patients with an inborn error of vitamin B12 metabolism … In this setting, clinical-exome
sequencing-based approaches … only on patients with cblC, cblG, cblE, cblD, and cblJ diseases.Third…

… exome sequencing and Sanger sequencing performed, it was detected that a compound
heterozygous mutation … -coenzyme A, whose inborn error can cause MMA accumulation due to …