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Journal Abstract Search

235 related items for PubMed ID: 38785935

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  • 4. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
    Monostori P, Godejohann M, Janda J, Galla Z, Rácz G, Klinke G, Szatmári I, Zsidegh P, Kohlmüller D, Kölker S, Hoffmann GF, Gramer G, Okun JG.
    Clin Biochem; 2023 Jan; 111():72-80. PubMed ID: 36202155
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  • 6. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
    Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U.
    J Inherit Metab Dis; 2024 Jul; 47(4):674-689. PubMed ID: 38563533
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  • 7. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
    Malvagia S, Haynes CA, Grisotto L, Ombrone D, Funghini S, Moretti E, McGreevy KS, Biggeri A, Guerrini R, Yahyaoui R, Garg U, Seeterlin M, Chace D, De Jesus VR, la Marca G.
    Clin Chim Acta; 2015 Oct 23; 450():342-8. PubMed ID: 26368264
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  • 9. 1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia.
    Kodama S, Sugiura M, Nakao H, Kobayashi K, Miyoshi M, Yoshii K, Komatsu M, Sakurai T.
    Acta Paediatr Jpn; 1991 Apr 23; 33(2):139-45. PubMed ID: 1957637
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  • 10. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
    Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC.
    Mol Genet Metab; 2019 Dec 23; 128(4):431-443. PubMed ID: 31757659
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  • 12. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
    Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM.
    J Inherit Metab Dis; 2020 May 23; 43(3):424-437. PubMed ID: 31828787
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  • 15. Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.
    Chandler RJ, Venditti CP.
    J Inherit Metab Dis; 2024 Jan 23; 47(1):63-79. PubMed ID: 37530705
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  • 16. A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
    Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA.
    Mol Genet Metab; 2021 May 23; 133(1):71-82. PubMed ID: 33741272
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  • 17. 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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  • 18. Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes.
    Critelli K, McKiernan P, Vockley J, Mazariegos G, Squires RH, Soltys K, Squires JE.
    Liver Transpl; 2018 Sep 01; 24(9):1260-1270. PubMed ID: 30080956
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  • 19. Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.
    Myles JG, Manoli I, Venditti CP.
    Curr Opin Clin Nutr Metab Care; 2018 Jan 01; 21(1):42-48. PubMed ID: 29035969
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  • 20. Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
    Anzmann AF, Pinto S, Busa V, Carlson J, McRitchie S, Sumner S, Pandey A, Vernon HJ.
    Biochim Biophys Acta Mol Basis Dis; 2019 Dec 01; 1865(12):165538. PubMed ID: 31449969
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