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Journal Abstract Search

285 related items for PubMed ID: 7726386

  • 21. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
    Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A.
    Orphanet J Rare Dis; 2021 Oct 11; 16(1):422. PubMed ID: 34635114
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  • 22. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.
    Brismar J, Ozand PT.
    AJNR Am J Neuroradiol; 1994 Sep 11; 15(8):1459-73. PubMed ID: 7985563
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  • 23. Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
    Parsons HG, Carter RJ, Unrath M, Snyder FF.
    J Inherit Metab Dis; 1990 Sep 11; 13(2):125-36. PubMed ID: 2116544
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  • 26. Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
    Chu TH, Chien YH, Lin HY, Liao HC, Ho HJ, Lai CJ, Chiang CC, Lin NC, Yang CF, Hwu WL, Lee NC, Lin SP, Liu CS, Hu RH, Ho MC, Niu DM.
    Orphanet J Rare Dis; 2019 Apr 02; 14(1):73. PubMed ID: 30940196
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  • 28. Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity.
    Hayasaka K, Metoki K, Satoh T, Narisawa K, Tada K, Kawakami T, Matsuo N, Aoki T.
    Tohoku J Exp Med; 1982 Jul 02; 137(3):329-34. PubMed ID: 6287671
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  • 29. NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias.
    Deleanu C, Nicolescu A.
    Biomolecules; 2024 Apr 28; 14(5):. PubMed ID: 38785935
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  • 30. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
    Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL.
    Pediatr Res; 1991 Jul 28; 30(1):15-22. PubMed ID: 1909779
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  • 31. Biomarkers for drug development in propionic and methylmalonic acidemias.
    Longo N, Sass JO, Jurecka A, Vockley J.
    J Inherit Metab Dis; 2022 Mar 28; 45(2):132-143. PubMed ID: 35038174
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  • 33. Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.
    Shoemaker JD, Lynch RE, Hoffmann JW, Sly WS.
    J Pediatr; 1992 Mar 28; 120(3):417-21. PubMed ID: 1538288
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  • 34. 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 28; 111():72-80. PubMed ID: 36202155
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  • 38. Parenteral nutrition in propionic acidemia and methylmalonic acidemia.
    Walter JH, Leonard JV, Thompson GN, Halliday D.
    J Pediatr; 1990 Aug 28; 117(2 Pt 1):338-9. PubMed ID: 2116511
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  • 40. 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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