… successful application of exome sequencing for diagnosis of a rare inborn error of vitamin B
12 metabolism in a patient whose unusual presentation precluded diagnosis using standard …

… : an inborn metabolic disorder of vitamin B12 (cobalamin), … ‐exome sequencing we identified
a homozygous mutation in … elsewhere (or detected in > 1500 in‐house exome datasets), …

… The study of patients with rare inborn errors has contributed … Exome sequencing revealed
that the patient had two … The cblJ inborn error was originally described in two patients. One had …

… L352fsX18) mutation and a novel c.1339-1G>T splice site … function in detecting inborn
errors of metabolism. Similar findings have been reported in a patient with the cblJ disorder, who …

… 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 …

… 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 …

… genetic complementation groups (cblA‑G, cblJ and cblX) (2). … vitamin B12‑binding proteins
in patients with inborn errors of … and identification of a novel mutation in MMACHC. BMC Med …

… Precise diagnosis of the inborn errors of Cbl metabolism … Four 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 …