… 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 …

… 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 …

… 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 …

… 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 …