185 related articles for article (PubMed ID: 9252790)
1. 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]
2. 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]
3. 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]
4. 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]
5. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.
Gibson KM; Sweetman L; Nyhan WL; Page TM; Greene C; Cann HM
Clin Chim Acta; 1982 Dec; 126(2):171-81. PubMed ID: 6185253
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 3-Hydroxy-3-methylglutaric aciduria.
Greene CL; Cann HM; Robinson BH; Gibson KM; Sweetman L; Holm J; Nyhan WL
J Neurogenet; 1984 Apr; 1(2):165-73. PubMed ID: 6085636
[TBL] [Abstract][Full Text] [Related]
8. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.
Wanders RJ; Schutgens RB; Zoeters PH
Clin Chim Acta; 1988 Jan; 171(1):95-101. PubMed ID: 2450702
[TBL] [Abstract][Full Text] [Related]
9. Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase.
Sewell AC; Sperl W; Herwig J; Böhles HJ
J Pediatr; 1997 Jul; 131(1 Pt 1):166-8. PubMed ID: 9255214
[No Abstract] [Full Text] [Related]
10. [Abnormality in the mitochondrial energy-producing system].
Ozawa T; Tanaka M
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):824-7. PubMed ID: 2855955
[No Abstract] [Full Text] [Related]
11. GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Shinka T; Kuhara T; Inoue Y; Matsumoto M; Matsumoto I; Nakamura H; Irimichi H; Hasumi K; Endo A
Acta Paediatr Jpn; 1992 Apr; 34(2):157-65. PubMed ID: 1377861
[TBL] [Abstract][Full Text] [Related]
12. [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].
Eirís J; Ribes A; Fernández-Prieto R; Rodríguez-García J; Rodríguez-Segade S; Castro-Gago M
Rev Neurol; 1998 Jun; 26(154):911-4. PubMed ID: 9658458
[TBL] [Abstract][Full Text] [Related]
13. Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
Rubio-Gozalbo ME; Ruitenbeek W; Bentlage HA; Schägger H; Sengers RC; Trijbels JM; ter Laak HJ; Mariman EC; Bakker MM; de Jager J; Smeitink JA
Eur J Pediatr; 1997 Dec; 156(12):931-4. PubMed ID: 9453375
[TBL] [Abstract][Full Text] [Related]
14. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
Dasouki M; Buchanan D; Mercer N; Gibson KM; Thoene J
J Inherit Metab Dis; 1987; 10(2):142-6. PubMed ID: 2443756
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Roland D; Jissendi-Tchofo P; Briand G; Vamecq J; Fontaine M; Ultré V; Acquaviva-Bourdain C; Mention K; Dobbelaere D
Mol Genet Metab; 2017 Jun; 121(2):111-118. PubMed ID: 28396157
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features.
Thyagarajan D; Byrne E
Int Rev Neurobiol; 2002; 53():93-144. PubMed ID: 12512338
[No Abstract] [Full Text] [Related]
19. Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.
Lerman-Sagie T; Rustin P; Lev D; Yanoov M; Leshinsky-Silver E; Sagie A; Ben-Gal T; Munnich A
J Inherit Metab Dis; 2001 Feb; 24(1):28-34. PubMed ID: 11286379
[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]