152 related articles for article (PubMed ID: 7916290)
1. 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]
2. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
Oyama C; Takahashi T; Matsumori M; Shoji Y; Tajima G; Sakura N; Hasegawa Y; Yamaguchi S; Kakinuma H; Takada G
Pediatr Int; 2007 Apr; 49(2):232-4. PubMed ID: 17445044
[No Abstract] [Full Text] [Related]
3. Long-term follow-up of 77 patients with isolated methylmalonic acidaemia.
Baumgarter ER; Viardot C
J Inherit Metab Dis; 1995; 18(2):138-42. PubMed ID: 7564229
[No Abstract] [Full Text] [Related]
4. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
Ledley FD; Crane AM; Lumetta M
Am J Hum Genet; 1990 Mar; 46(3):539-47. PubMed ID: 1968706
[TBL] [Abstract][Full Text] [Related]
5. Towards metabolic sink therapy for mut methylmalonic acidaemia: retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.
Chang CC; Hsiao KJ; Chen ML; Lin CM
J Inherit Metab Dis; 1999 Dec; 22(8):951-2. PubMed ID: 10604156
[No Abstract] [Full Text] [Related]
6. Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
Narisawa K; Saito T; Hisa S; Suzuki H; Hayasaka K
Tohoku J Exp Med; 1977 Sep; 123(1):1-8. PubMed ID: 21471
[TBL] [Abstract][Full Text] [Related]
7. [Methylmalonic acidemia].
Ohura T
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):579-84. PubMed ID: 2908397
[No Abstract] [Full Text] [Related]
8. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
Thomä NH; Leadlay PF
Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917
[TBL] [Abstract][Full Text] [Related]
9. Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
Buck NE; Dashnow H; Pitt JJ; Wood LR; Peters HL
PLoS One; 2012; 7(9):e44974. PubMed ID: 23024777
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations in a Thai patient with methylmalonic acidemia.
Champattanachai V; Ketudat Cairns JR; Shotelersuk V; Keeratichamroen S; Sawangareetrakul P; Srisomsap C; Kaewpaluek V; Svasti J
Mol Genet Metab; 2003 Aug; 79(4):300-2. PubMed ID: 12948746
[TBL] [Abstract][Full Text] [Related]
11. [Isolated methylmalonyl-CoA mutase deficiency].
Yoshino M
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):269-72. PubMed ID: 9590044
[No Abstract] [Full Text] [Related]
12. A radio-HPLC assay for the measurement of methylmalonyl-CoA mutase.
Causey AG; Bartlett K
Clin Chim Acta; 1984 May; 139(2):179-86. PubMed ID: 6145531
[No Abstract] [Full Text] [Related]
13. Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
Chang CC; Hsiao KJ; Lee YM; Lin CM
J Inherit Metab Dis; 1999 Oct; 22(7):773-87. PubMed ID: 10518277
[TBL] [Abstract][Full Text] [Related]
14. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
Kakinuma H; Ogura N; Ohtake A; Takayanagi M; Nakajima H; Kondo H; Terada H; Okuda K; Nomoto Y
J Inherit Metab Dis; 1985; 8(3):151-2. PubMed ID: 2879965
[No Abstract] [Full Text] [Related]
15. A common mutation among blacks with mut- methylmalonic aciduria.
Adjalla CE; Hosack AR; Matiaszuk NV; Rosenblatt DS
Hum Mutat; 1998; Suppl 1():S248-50. PubMed ID: 9452100
[No Abstract] [Full Text] [Related]
16. Recent advances in the inherited methylmalonic acidemias.
Mahoney MJ; Bick D
Acta Paediatr Scand; 1987 Sep; 76(5):689-96. PubMed ID: 2889315
[TBL] [Abstract][Full Text] [Related]
17. Renal transplantation in a patient with methylmalonic acidaemia.
Van Calcar SC; Harding CO; Lyne P; Hogan K; Banerjee R; Sollinger H; Rieselbach RE; Wolff JA
J Inherit Metab Dis; 1998 Oct; 21(7):729-37. PubMed ID: 9819702
[TBL] [Abstract][Full Text] [Related]
18. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
Buck NE; Wood LR; Hamilton NJ; Bennett MJ; Peters HL
Biochem Biophys Res Commun; 2012 Nov; 427(4):753-7. PubMed ID: 23041189
[TBL] [Abstract][Full Text] [Related]
19. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B; Pérez B; Pérez-Cerdá C; Rincón A; Desviat LR; Martínez MA; Sala PR; García MJ; Aldamiz-Echevarría L; Campos J; Cornejo V; Del Toro M; Mahfoud A; Martínez-Pardo M; Parini R; Pedrón C; Peña-Quintana L; Pérez M; Pourfarzam M; Ugarte M
J Inherit Metab Dis; 2008 Feb; 31(1):55-66. PubMed ID: 17957493
[TBL] [Abstract][Full Text] [Related]
20. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
Chandler RJ; Tsai MS; Dorko K; Sloan J; Korson M; Freeman R; Strom S; Venditti CP
BMC Med Genet; 2007 Apr; 8():24. PubMed ID: 17470278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]