Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome-Reference-Cited by-同舟云学术

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome

Published:2018-04-16 Issue:6 Volume:176 Page:1411-1415
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hannah-Shmouni Fady¹,Cruz Vivian¹,Schulze Andreas¹²,Mercimek-Andrews Saadet¹²^ORCID

Affiliation:

1. Division of Clinical and Metabolic Genetics, Department of Pediatrics; University of Toronto, The Hospital for Sick Children; Toronto Ontario Canada

2. Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children; Toronto Ontario Canada

Funder

Centre for Genetic Medicine

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Mutations in TCblR, the gene for the transcobalamin receptor, result in decreased cellular uptake of vitamin B12 and methylmalonic aciduria;Anastasio;Molecular Genetics and Metabolism,2009

2. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia;Baumgartner;Orphanet Journal of Rare Diseases,2014

3. Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the Globus pallidus;Heidenreich;The Journal of Pediatrics,1988

4. Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia;Karth;J AAPOS,2012

5. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12);Quadros;Human Mutation,2010

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1. Homocysteine—a retrospective and prospective appraisal;Frontiers in Nutrition;2023-06-13

2. CD320 expression and apical membrane targeting in renal and intestinal epithelial cells;International Journal of Biological Macromolecules;2022-03

3. Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene;American Journal of Medical Genetics Part A;2022-02-02

4. Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening;American Journal of Medical Genetics Part A;2022-01-03

5. Inherited defects of cobalamin metabolism;Vitamins and Hormones;2022