Associated Papers
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
36717752 (PubMed )
Supplement: 42255_2022_720_MOESM1_ESM.pdf
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.
Zhan S et al.
Bmc Pediatrics, 2020
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A et al.
Archives of Disease in Childhood, 2017
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
Trakadis YJ et al.
Journal of Inherited Metabolic Disease, 2014
Should transcobalamin deficiency be treated aggressively?
Schiff M et al.
Journal of Inherited Metabolic Disease, 2010
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