166 related articles for article (PubMed ID: 6434828)
41. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
Giardini O; Marzetti G; Lubrano R; Laurenti F; Martino F; Mannarino O; D'Eufemia P; Ruberto U
Minerva Pediatr; 1980 Sep; 32(17):1039-46. PubMed ID: 6109233
[No Abstract] [Full Text] [Related]
42. Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
Mayatepek E; Hoffmann GF; Baumgartner R; Schulze A; Jakobs C; Trefz FK; Bremer HJ
Eur J Pediatr; 1996 May; 155(5):398-403. PubMed ID: 8741039
[TBL] [Abstract][Full Text] [Related]
43. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Illson ML; Dempsey-Nunez L; Kent J; Huang Q; Brebner A; Raff ML; Watkins D; Gilfix BM; Wittwer CT; Rosenblatt DS
Mol Genet Metab; 2013; 110(1-2):86-9. PubMed ID: 23707710
[TBL] [Abstract][Full Text] [Related]
44. [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; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
[TBL] [Abstract][Full Text] [Related]
45. Studies on cultured fibroblasts in a case of methylmalonic aciduria.
Davidson JS; Lloyd A; Christianson A; Harley EH; Berger GM
S Afr Med J; 1984 Feb; 65(7):257-60. PubMed ID: 6141644
[TBL] [Abstract][Full Text] [Related]
46. Seven novel mutations in mut methylmalonic aciduria.
Adjalla CE; Hosack AR; Gilfix BM; Lamothe E; Sun S; Chan A; Evans S; Matiaszuk NV; Rosenblatt DS
Hum Mutat; 1998; 11(4):270-4. PubMed ID: 9554742
[TBL] [Abstract][Full Text] [Related]
47. A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.
van den Berg H; Boelkens MT; Hommes FA
Acta Paediatr Scand; 1976 Jan; 65(1):113-8. PubMed ID: 3087
[TBL] [Abstract][Full Text] [Related]
48. Editorial: Prenatal treatment of methylmalonic acidemia.
Nyhan WL
N Engl J Med; 1975 Aug; 293(7):353-4. PubMed ID: 1152927
[No Abstract] [Full Text] [Related]
49. Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Froese DS; Healy S; McDonald M; Kochan G; Oppermann U; Niesen FH; Gravel RA
Mol Genet Metab; 2010 May; 100(1):29-36. PubMed ID: 20219402
[TBL] [Abstract][Full Text] [Related]
50. Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe.
Bender C; Büchler A; Baumgartner R; Konecki DS; Trefz FK
Eur J Pediatr; 1994 Jun; 153(6):468. PubMed ID: 7916290
[No Abstract] [Full Text] [Related]
51. [Vitamin-B12-dependent methylmalonic acidemia in twins].
Karsten J; Hansen HG; Heuer R; Wulff UC; Kneer J
Monatsschr Kinderheilkd; 1983 May; 131(5):289-92. PubMed ID: 6877249
[TBL] [Abstract][Full Text] [Related]
52. 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]
53. Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.
Morrow G; Lebowitz J
Biochem Med; 1976 Jun; 15(3):241-5. PubMed ID: 11786
[No Abstract] [Full Text] [Related]
54. B12-unresponsive methylmalonic aciduria in a female infant.
Vecchio F; Carnevale F; Paganetti G; di Bitonto G; Penza R; Francioso G
J Inherit Metab Dis; 1980; 3(3):91-2. PubMed ID: 6775146
[No Abstract] [Full Text] [Related]
55. Methylmalonic aciduria (cblF): case report and response to therapy.
Waggoner DJ; Ueda K; Mantia C; Dowton SB
Am J Med Genet; 1998 Oct; 79(5):373-5. PubMed ID: 9779804
[TBL] [Abstract][Full Text] [Related]
56. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
Gravel RA; Mahoney MJ; Ruddle FH; Rosenberg LE
Proc Natl Acad Sci U S A; 1975 Aug; 72(8):3181-5. PubMed ID: 1059104
[TBL] [Abstract][Full Text] [Related]
57. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
Crane AM; Jansen R; Andrews ER; Ledley FD
J Clin Invest; 1992 Feb; 89(2):385-91. PubMed ID: 1346616
[TBL] [Abstract][Full Text] [Related]
58. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.
Roe CR; Hoppel CL; Stacey TE; Chalmers RA; Tracey BM; Millington DS
Arch Dis Child; 1983 Nov; 58(11):916-20. PubMed ID: 6651329
[TBL] [Abstract][Full Text] [Related]
59. 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; 27(7):640-3. PubMed ID: 16752391
[TBL] [Abstract][Full Text] [Related]
60. Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia.
Kølvraa S; Gregersen N; Christensen E; Rasmussen K
J Inherit Metab Dis; 1980; 3(3):63-6. PubMed ID: 6775138
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
