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Journal Abstract Search

213 related items for PubMed ID: 23141461

  • 21. [Vitamin B12 and related genetic disorders].
    Guéant JL, Coelho D, Nicolas JP.
    Bull Acad Natl Med; 2014 Jun; 198(6):1141-56. PubMed ID: 26983191
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  • 23. Genetic defects of folate and cobalamin metabolism.
    Fowler B.
    Eur J Pediatr; 1998 Apr; 157 Suppl 2():S60-6. PubMed ID: 9587028
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  • 29. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
    Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B.
    J Biol Chem; 2004 Oct 08; 279(41):42742-9. PubMed ID: 15292234
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  • 35. Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
    Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A.
    Am J Med Genet A; 2021 Jun 08; 185(6):1870-1874. PubMed ID: 33729671
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  • 38. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
    Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.
    J Med Genet; 2011 Sep 08; 48(9):602-5. PubMed ID: 21785126
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  • 40. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
    Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS.
    Hum Mutat; 2004 Dec 08; 24(6):509-16. PubMed ID: 15523652
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