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Journal Abstract Search

804 related items for PubMed ID: 24095221

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  • 3. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
    Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR, Additional Contributors from E-IMD.
    J Inherit Metab Dis; 2021 Jan; 44(1):193-214. PubMed ID: 32754920
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  • 4. Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.
    Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, Touati G, Arnoux JB, Barbier V, Bahi-Buisson N, Desguerre I, Charbit M, Benoist JF, Dupic L, Aigrain Y, Blanc T, Salomon R, Rabier D, Guest G, de Lonlay P, Niaudet P.
    Mol Genet Metab; 2013 Jan; 110(1-2):106-10. PubMed ID: 23751327
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  • 5. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
    Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.
    Pediatr Res; 2007 Aug; 62(2):225-30. PubMed ID: 17597648
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  • 6. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
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  • 15. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
    Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D.
    BMC Pediatr; 2021 Dec 16; 21(1):578. PubMed ID: 34915869
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  • 16. Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
    Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R.
    J Inherit Metab Dis; 2022 Sep 16; 45(5):937-951. PubMed ID: 35618652
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  • 17. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.
    Mol Genet Metab; 2005 Apr 16; 84(4):317-25. PubMed ID: 15781192
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  • 18. Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
    Baumgartner ER, Wick H, Linnell JC, Gaull GE, Bachmann C, Steinmann B.
    Helv Paediatr Acta; 1979 Apr 16; 34(5):483-96. PubMed ID: 43301
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