Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
Author:
Affiliation:
1. Department of Genetics, Genomics, and Metabolic Disorders Children's Hospital of Michigan Detroit Michigan USA
2. Department of Pediatrics Central Michigan University School of Medicine Mt Pleasant Michigan USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62623
Reference7 articles.
1. Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome
2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
3. Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia
4. Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects
5. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12
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