MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

Author:

Torices Leire,de las Heras Javier,Arango-Lasprilla Juan Carlos,Cortés Jesús M.,Nunes-Xavier Caroline E.,Pulido Rafael

Funder

Instituto de Salud Carlos III

Fundación Mutua Madrileña

Ministerio de Economía, Industria y Competitividad, Gobierno de España

European Commission

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference54 articles.

1. Vitamin-Responsive Disorders: Cobalamin, Folate, Biotin, Vitamins B1 and E Handb Clin Neurol 113;Baumgartner,2013

2. Navigating the B(12) road: assimilation, delivery, and disorders of cobalamin;Gherasim;J. Biol. Chem.,2013

3. The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways;Huemer;Journal of inherited metabolic disease,2019

4. Clinical practice. Vitamin B12 deficiency;Stabler;The New England journal of medicine,2013

5. Disorders of intracellular cobalamin metabolism;Sloan,1993

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