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Journal Abstract Search

280 related items for PubMed ID: 32143654

  • 1. Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
    Haijes HA, Jans JJM, van der Ham M, van Hasselt PM, Verhoeven-Duif NM.
    Orphanet J Rare Dis; 2020 Mar 06; 15(1):68. PubMed ID: 32143654
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  • 2. 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 06; 130(3):183-196. PubMed ID: 32451238
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  • 3. 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 06; 128(4):431-443. PubMed ID: 31757659
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  • 4. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
    Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M, Additional individual contributors from E-IMD.
    Mol Genet Metab; 2019 Apr 06; 126(4):397-405. PubMed ID: 30827756
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  • 7. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
    Maines E, Catesini G, Boenzi S, Mosca A, Candusso M, Dello Strologo L, Martinelli D, Maiorana A, Liguori A, Olivieri G, Taurisano R, Piemonte F, Rizzo C, Spada M, Dionisi-Vici C.
    J Inherit Metab Dis; 2020 Nov 06; 43(6):1173-1185. PubMed ID: 32681732
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  • 9. Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.
    Yap S, Lamireau D, Feillet F, Ruiz Gomez A, Davison J, Tangeraas T, Giordano V.
    Drugs R D; 2024 Mar 06; 24(1):69-80. PubMed ID: 38198106
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  • 11. Long-term liver disease in methylmalonic and propionic acidemias.
    Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF.
    Mol Genet Metab; 2018 Apr 06; 123(4):433-440. PubMed ID: 29433791
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  • 13. Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ).
    Sikirica V, Schwartz EJ, Vockley J, Stagni K, Bellenger MA, Banerjee G, Durgam N, Moshkovich O.
    Mol Genet Metab; 2024 Apr 06; 143(1-2):108577. PubMed ID: 39303317
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  • 15. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
    Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner MR, Kölker S, Hoffmann GF, Gramer G, Okun JG.
    PLoS One; 2017 Apr 06; 12(9):e0184897. PubMed ID: 28915261
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  • 17. 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 06; 47(4):674-689. PubMed ID: 38563533
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  • 18. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
    Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.
    Orphanet J Rare Dis; 2013 Sep 23; 8():148. PubMed ID: 24059531
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  • 19. 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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  • 20. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
    Nashabat M, Obaid A, Al Mutairi F, Saleh M, Elamin M, Ahmed H, Ababneh F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Aljeraisy M, Hussein MA, Alasmari A, Alfadhel M.
    BMC Pediatr; 2019 Jun 13; 19(1):195. PubMed ID: 31196016
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