These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
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]
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]