Associated Papers
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN et al.
World Journal of Pediatrics : Wjp, 2024
38070096 (PubMed )
Supplement: 12519_2023_770_MOESM2_ESM.pdf
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Proteomics of vitamin B12 processing.
Hannibal L et al.
Clinical Chemistry and Laboratory Medicine, 2013
Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.
Froese DS et al.
Biochemistry, 2012
Select a paper to view details