166 related articles for article (PubMed ID: 12889659)
21. Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases.
Bodemer C; De Prost Y; Bachollet B; Poggi F; Teillac-Hamel D; Fraitag S; Saudubray JM
Br J Dermatol; 1994 Jul; 131(1):93-8. PubMed ID: 8043426
[TBL] [Abstract][Full Text] [Related]
22. Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Derks TG; Touw CM; Ribas GS; Biancini GB; Vanzin CS; Negretto G; Mescka CP; Reijngoud DJ; Smit GP; Wajner M; Vargas CR
J Inherit Metab Dis; 2014 Sep; 37(5):783-9. PubMed ID: 24623196
[TBL] [Abstract][Full Text] [Related]
23. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
Duran M; Bruinvis L; Ketting D; Kamerling JP; Wadman SK; Schutgens RB
Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658
[TBL] [Abstract][Full Text] [Related]
24. [Infant coma in the emergency department: 2 cases of MCAD deficiency].
Hoflack M; Caruba C; Pitelet G; Haas H; Mas JC; Paquis V; Berard E
Arch Pediatr; 2010 Jul; 17(7):1074-7. PubMed ID: 20434892
[TBL] [Abstract][Full Text] [Related]
25. Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.
Dave P; Curless RG; Steinman L
Arch Neurol; 1984 Dec; 41(12):1293-6. PubMed ID: 6497733
[TBL] [Abstract][Full Text] [Related]
26. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Lehotay DC; LePage J; Thompson JR; Rockman-Greenberg C
J Inherit Metab Dis; 2004; 27(1):81-8. PubMed ID: 14970748
[TBL] [Abstract][Full Text] [Related]
27. Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
Minkler PE; Hoppel CL
Anal Biochem; 1993 Aug; 212(2):510-8. PubMed ID: 8214594
[TBL] [Abstract][Full Text] [Related]
28. Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy.
Davies SE; Iles RA; Stacey TE; de Sousa C; Chalmers RA
Clin Chim Acta; 1991 Dec; 204(1-3):263-77. PubMed ID: 1819469
[TBL] [Abstract][Full Text] [Related]
29. Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Catzeflis C; Bachmann C; Hale DE; Coates PM; Wiesmann U; Colombo JP; Joris F; Délèze G
Eur J Pediatr; 1990 May; 149(8):577-81. PubMed ID: 2347356
[TBL] [Abstract][Full Text] [Related]
30. Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Saudubray JM; Ogier H; Charpentier C; Depondt E; Coudé FX; Munnich A; Mitchell G; Rey F; Rey J; Frézal J
J Inherit Metab Dis; 1984; 7 Suppl 1():2-9. PubMed ID: 6434839
[TBL] [Abstract][Full Text] [Related]
31. [Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory].
Heinonen OJ; Iitiä A; Irjala K; Pulkki K
Duodecim; 1996; 112(1):35-41. PubMed ID: 10590599
[No Abstract] [Full Text] [Related]
32. Carnitine deficiency in inherited organic acid disorders and Reye syndrome.
Sugiyama N; Kidouchi K; Kobayashi M; Wada Y
Acta Paediatr Jpn; 1990 Aug; 32(4):410-6. PubMed ID: 2288224
[TBL] [Abstract][Full Text] [Related]
33. Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG; Diekman EF; Jans JJ; van der Ham M; Prinsen BH; Visser G; Verhoeven-Duif NM
Mol Genet Metab; 2013; 110(1-2):116-21. PubMed ID: 23639448
[TBL] [Abstract][Full Text] [Related]
34. 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; 152(12):1021-3. PubMed ID: 8131803
[TBL] [Abstract][Full Text] [Related]
35. Renal handling of carnitine in secondary carnitine deficiency disorders.
Stanley CA; Berry GT; Bennett MJ; Willi SM; Treem WR; Hale DE
Pediatr Res; 1993 Jul; 34(1):89-97. PubMed ID: 8356025
[TBL] [Abstract][Full Text] [Related]
36. [Studies on the beneficial effect of levocarnitine chloride (LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia].
Fujisawa S; Shimatani K; Yamada H; Hironaka Y
Nihon Yakurigaku Zasshi; 1989 May; 93(5):305-14. PubMed ID: 2744657
[TBL] [Abstract][Full Text] [Related]
37. The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia.
Böhles H; Lehnert W
Eur J Pediatr; 1984 Nov; 143(1):61-3. PubMed ID: 6510434
[TBL] [Abstract][Full Text] [Related]
38. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.
Chace DH; DiPerna JC; Kalas TA; Johnson RW; Naylor EW
Clin Chem; 2001 Nov; 47(11):2040-4. PubMed ID: 11673377
[No Abstract] [Full Text] [Related]
39. 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; 702(1):123-8. PubMed ID: 20659584
[TBL] [Abstract][Full Text] [Related]
40. Liver transplantation in propionic acidaemia.
Saudubray JM; Touati G; Delonlay P; Jouvet P; Schlenzig J; Narcy C; Laurent J; Rabier D; Kamoun P; Jan D; Revillon Y
Eur J Pediatr; 1999 Dec; 158 Suppl 2():S65-9. PubMed ID: 10603102
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]