120 related articles for article (PubMed ID: 11292221)
1. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.
Scaglia F; Sutton VR; Bodamer OA; Vogel H; Shapira SK; Naviaux RK; Vladutiu GD
J Child Neurol; 2001 Feb; 16(2):136-8. PubMed ID: 11292221
[TBL] [Abstract][Full Text] [Related]
2. Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts.
Ruesch S; Krähenbühl S; Kleinle S; Liechti-Gallati S; Schaffner T; Wermuth B; Weber J; Wiesmann UN
Enzyme Protein; 1996; 49(5-6):321-9. PubMed ID: 9252790
[TBL] [Abstract][Full Text] [Related]
3. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
Lehnert W; Scharf J; Wendel U
Eur J Pediatr; 1985 Mar; 143(4):301-3. PubMed ID: 2580710
[TBL] [Abstract][Full Text] [Related]
4. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.
Ibel H; Endres W; Hadorn HB; Deufel T; Paetzke I; Duran M; Kennaway NG; Gibson KM
Eur J Pediatr; 1993 Aug; 152(8):665-70. PubMed ID: 7691603
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.
Gibson KM; Sherwood WG; Hoffman GF; Stumpf DA; Dianzani I; Schutgens RB; Barth PG; Weismann U; Bachmann C; Schrynemackers-Pitance P
J Pediatr; 1991 Jun; 118(6):885-90. PubMed ID: 1710267
[TBL] [Abstract][Full Text] [Related]
6. Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.
Duran M; Beemer FA; Tibosch AS; Bruinvis L; Ketting D; Wadman SK
J Pediatr; 1982 Oct; 101(4):551-4. PubMed ID: 6181239
[TBL] [Abstract][Full Text] [Related]
7. 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.
Hammond J; Wilcken B
J Inherit Metab Dis; 1984; 7 Suppl 2():117-8. PubMed ID: 6207381
[No Abstract] [Full Text] [Related]
8. Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.
Haan EA; Scholem RD; Pitt JJ; Wraith JE; Brown GK
Eur J Pediatr; 1987 Sep; 146(5):484-8. PubMed ID: 2445577
[TBL] [Abstract][Full Text] [Related]
9. Multiple syndromes of 3-methylglutaconic aciduria.
Gibson KM; Elpeleg ON; Jakobs C; Costeff H; Kelley RI
Pediatr Neurol; 1993; 9(2):120-3. PubMed ID: 8499040
[TBL] [Abstract][Full Text] [Related]
10. 3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
Elpeleg ON; Costeff H; Joseph A; Shental Y; Weitz R; Gibson KM
Dev Med Child Neurol; 1994 Feb; 36(2):167-72. PubMed ID: 7510656
[TBL] [Abstract][Full Text] [Related]
11. 3-Methylglutaconic aciduria in two adults.
Kuhara T; Matsumoto I; Saiki K; Takabayashi H; Kuwabara S
Clin Chim Acta; 1992 Apr; 207(1-2):151-3. PubMed ID: 1375542
[No Abstract] [Full Text] [Related]
12. Behr's syndrome and 3-methylglutaconic aciduria.
Sheffer RN; Zlotogora J; Elpeleg ON; Raz J; Ben-Ezra D
Am J Ophthalmol; 1992 Oct; 114(4):494-7. PubMed ID: 1384336
[TBL] [Abstract][Full Text] [Related]
13. Urinary organic acid screening in children with developmental language delay.
Michelson M; Harel S; Gutman A; Lerman-Sagie T
J Inherit Metab Dis; 1999 Oct; 22(7):815-20. PubMed ID: 10518282
[TBL] [Abstract][Full Text] [Related]
14. What is the origin of 3-methylglutaconic acid?
Walsh R; Conway H; Roche G; Mayne PD
J Inherit Metab Dis; 1999 May; 22(3):251-5. PubMed ID: 10384380
[No Abstract] [Full Text] [Related]
15. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
Engelke UF; Kremer B; Kluijtmans LA; van der Graaf M; Morava E; Loupatty FJ; Wanders RJ; Moskau D; Loss S; van den Bergh E; Wevers RA
NMR Biomed; 2006 Apr; 19(2):271-8. PubMed ID: 16541463
[TBL] [Abstract][Full Text] [Related]
16. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
Wortmann SB; Kluijtmans LA; Rodenburg RJ; Sass JO; Nouws J; van Kaauwen EP; Kleefstra T; Tranebjaerg L; de Vries MC; Isohanni P; Walter K; Alkuraya FS; Smuts I; Reinecke CJ; van der Westhuizen FH; Thorburn D; Smeitink JA; Morava E; Wevers RA
J Inherit Metab Dis; 2013 Nov; 36(6):913-21. PubMed ID: 23355087
[TBL] [Abstract][Full Text] [Related]
17. 3-Methylglutaconic aciduria in two infants.
Hagberg B; Hjalmarson O; Lindstedt S; Ransnäs L; Steen G
Clin Chim Acta; 1983 Oct; 134(1-2):59-67. PubMed ID: 6197209
[TBL] [Abstract][Full Text] [Related]
18. 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings.
Jareño NM; Fernández-Mayoralas DM; Silvestre CP; Cortés BM; Pérez MU; Campos-Castelló J
J Child Neurol; 2007 Feb; 22(2):218-21. PubMed ID: 17621487
[TBL] [Abstract][Full Text] [Related]
19. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB; Rodenburg RJ; Jonckheere A; de Vries MC; Huizing M; Heldt K; van den Heuvel LP; Wendel U; Kluijtmans LA; Engelke UF; Wevers RA; Smeitink JA; Morava E
Brain; 2009 Jan; 132(Pt 1):136-46. PubMed ID: 19015156
[TBL] [Abstract][Full Text] [Related]
20. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Shchelochkov OA; Li FY; Wang J; Zhan H; Towbin JA; Jefferies JL; Wong LJ; Scaglia F
Mol Genet Metab; 2010; 101(2-3):282-5. PubMed ID: 20728387
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]