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Journal Abstract Search

145 related items for PubMed ID: 27699154

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  • 3. Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
    Abily-Donval L, Torre S, Samson A, Sudrié-Arnaud B, Acquaviva C, Guerrot AM, Benoist JF, Marret S, Bekri S, Tebani A.
    Int J Mol Sci; 2017 Nov 01; 18(11):. PubMed ID: 29104221
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  • 8. 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 01; 27(7):640-3. PubMed ID: 16752391
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  • 10. Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
    Yazıcı H, Canda E, Onay H, Uçar SK, Habif S, Çoker M.
    Turk J Pediatr; 2022 Jul 01; 64(5):946-950. PubMed ID: 36305448
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  • 11. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR.
    Mol Genet Metab; 2020 Jul 01; 130(3):183-196. PubMed ID: 32451238
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  • 15. Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry.
    Rizzo C, Boenzi S, Inglese R, la Marca G, Muraca M, Martinez TB, Johnson DW, Zelli E, Dionisi-Vici C.
    Clin Chim Acta; 2014 Feb 15; 429():30-3. PubMed ID: 24269713
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  • 17. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
    Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.
    Am J Hum Genet; 2007 Dec 15; 81(6):1262-70. PubMed ID: 17966092
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  • 19. Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.
    Mohamed S, Hamad MH, Abu-Amero KK.
    Saudi Med J; 2015 Sep 15; 36(9):1110-4. PubMed ID: 26318470
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