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22. 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 [Abstract] [Full Text] [Related]
23. L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. Roe CR, Millington DS, Maltby DA, Bohan TP, Hoppel CL. J Clin Invest; 1984 Jun 23; 73(6):1785-8. PubMed ID: 6725560 [Abstract] [Full Text] [Related]
24. Propionic acidemia--biochemical studies. Barash V, Elpeleg O, Amit R, Gottfried S, Yatziv S, Gutman A. Isr J Med Sci; 1989 Feb 23; 25(2):103-6. PubMed ID: 2495260 [Abstract] [Full Text] [Related]
25. [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate. Tanaka K, Armitage IM, Ramsdell HS, Hsia YE, Lipsky SR, Rosenberg LE. Proc Natl Acad Sci U S A; 1975 Sep 23; 72(9):3692-6. PubMed ID: 1059159 [Abstract] [Full Text] [Related]
26. Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. Ampola MG, Mahoney MJ, Nakamura E, Tanaka K. N Engl J Med; 1975 Aug 14; 293(7):313-7. PubMed ID: 239344 [Abstract] [Full Text] [Related]
27. Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Henriquez H, el Din A, Ozand PT, Subramanyam SB, al Gain SI. Brain Dev; 1994 Nov 14; 16 Suppl():86-93. PubMed ID: 7726386 [Abstract] [Full Text] [Related]
28. Methylmalonic and propionic acidemias: lipid profiles of normal and affected human skin fibroblasts incubated with [1-14C]propionate. Giudici TA, Chen RG, Oizumi J, Shaw KN, Ng WG, Donnell GN. Biochem Med Metab Biol; 1986 Jun 14; 35(3):384-98. PubMed ID: 2872907 [Abstract] [Full Text] [Related]
29. Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro. Ribas GS, Manfredini V, de Marco MG, Vieira RB, Wayhs CY, Vanzin CS, Biancini GB, Wajner M, Vargas CR. Mutat Res; 2010 Sep 30; 702(1):123-8. PubMed ID: 20659584 [Abstract] [Full Text] [Related]
30. 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 30; 27(7):640-3. PubMed ID: 16752391 [Abstract] [Full Text] [Related]
36. [Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)]. Saudubray JM, Charpentier C, Coude FX, Ogier H, Pham Dinh D, Bartlett K, Gompertz D. Arch Fr Pediatr; 1980 Nov 30; 37 Suppl 2():IX-XIV. PubMed ID: 6108749 [Abstract] [Full Text] [Related]
37. [Biotin deficiency in the germ-free rat and propionic acidemia]. Cherruau B, Sacquet E, Mangeot M, Demelier JF, Lemonnier A. Ann Nutr Metab; 1983 Nov 30; 27(1):48-56. PubMed ID: 6830142 [Abstract] [Full Text] [Related]
38. Contribution of odd-numbered fatty acid oxidation to propionate production in neonates with methylmalonic and propionic acidaemias. Wendel U, Zass R, Leupold D. Eur J Pediatr; 1993 Dec 30; 152(12):1021-3. PubMed ID: 8131803 [Abstract] [Full Text] [Related]
39. Metabolomics identifies perturbations in human disorders of propionate metabolism. Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G. Clin Chem; 2007 Dec 30; 53(12):2169-76. PubMed ID: 17951291 [Abstract] [Full Text] [Related]
40. Unusual presentations of propionic acidemia. Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, al Garawi S, al Aqeel A. Brain Dev; 1994 Nov 30; 16 Suppl():46-57. PubMed ID: 7726381 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]