Results 111 to 120 of about 1,993 (190)
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia [PDF]
, 2017 The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations in methionine synthase (MTR) decrease conversion of hydroxocobalamin (HOCbl) to methylcobalamin, while in cblC, mutations in ...
Dreumont, Natacha +14 more
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INVESTIGATION ON MMACHC-R161Q PATHOLOGICAL MUTANT FROM cblC DISEASE, A RARE METABOLIC DISORDER OF VITAMIN B12 METABOLISM [PDF]
The cblC disease is a rare inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by combined methylmalonic aciduria and homocystinuria.
Marco Tutone +13 more
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Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds. [PDF]
ACS OmegaZhi HJ +13 more
europepmc +1 more source
Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities. [PDF]
PharmaceuticsCuello-Rodríguez S +5 more
europepmc +1 more source
Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series. [PDF]
J Clin ImmunolHe R, Liu J, Zhao S, Yang H.
europepmc +1 more source