111 related articles for article (PubMed ID: 8582058)
1. 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase.
Röschinger W; Millington DS; Gage DA; Huang ZH; Iwamoto T; Yano S; Packman S; Johnston K; Berry SA; Sweetman L
Clin Chim Acta; 1995 Aug; 240(1):35-51. PubMed ID: 8582058
[No Abstract] [Full Text] [Related]
2. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
Mourmans J; Bakkeren J; de Jong J; Wevers R; van Diggelen OP; Suormala T; Baumgartner R; Wendel U
J Inherit Metab Dis; 1995; 18(5):643-5. PubMed ID: 8598650
[No Abstract] [Full Text] [Related]
3. 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.
van Hove JL; Rutledge SL; Nada MA; Kahler SG; Millington DS
J Inherit Metab Dis; 1995; 18(5):592-601. PubMed ID: 8598640
[TBL] [Abstract][Full Text] [Related]
4. Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.
Rutledge SL; Berry GT; Stanley CA; van Hove JL; Millington D
J Inherit Metab Dis; 1995; 18(3):299-305. PubMed ID: 7474896
[TBL] [Abstract][Full Text] [Related]
5. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Tuchman M; Berry SA; Thuy LP; Nyhan WL
Pediatrics; 1993 Mar; 91(3):664-6. PubMed ID: 8441580
[No Abstract] [Full Text] [Related]
6. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.
Eminoglu FT; Ozcelik AA; Okur I; Tumer L; Biberoglu G; Demir E; Hasanoglu A; Baumgartner MR
J Child Neurol; 2009 Apr; 24(4):478-81. PubMed ID: 19339287
[TBL] [Abstract][Full Text] [Related]
7. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
Bartlett K; Ng H; Leonard JV
Clin Chim Acta; 1980 Jan; 100(2):183-6. PubMed ID: 6766095
[TBL] [Abstract][Full Text] [Related]
8. Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.
Pinto L; Zen P; Rosa R; Paskulin G; Perla A; Barea L; Baumgartner MR; Dantas MF; Fowler B; Giugliani R; Vargas C; Wajner M; Graziadio C
J Inherit Metab Dis; 2006 Feb; 29(1):205-6. PubMed ID: 16601894
[TBL] [Abstract][Full Text] [Related]
9. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Elpeleg ON; Havkin S; Barash V; Jakobs C; Glick B; Shalev RS
J Pediatr; 1992 Sep; 121(3):407-10. PubMed ID: 1517917
[TBL] [Abstract][Full Text] [Related]
10. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Morscher RJ; Grünert SC; Bürer C; Burda P; Suormala T; Fowler B; Baumgartner MR
Mol Genet Metab; 2012 Apr; 105(4):602-6. PubMed ID: 22264772
[TBL] [Abstract][Full Text] [Related]
11. Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.
Stokke O; Eldjarn L; Jellum E; Pande H; Waaler PE
Pediatrics; 1972 May; 49(5):726-35. PubMed ID: 5035417
[No Abstract] [Full Text] [Related]
12. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.
Lehnert W; Niederhoff H; Suormala T; Baumgartner ER
Eur J Pediatr; 1996 Jul; 155(7):568-72. PubMed ID: 8831079
[TBL] [Abstract][Full Text] [Related]
13. Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Tsai MY; Johnson DD; Sweetman L; Berry SA
J Pediatr; 1989 Jul; 115(1):110-3. PubMed ID: 2738779
[No Abstract] [Full Text] [Related]
14. Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase.
Finnie MD; Cottrall K; Seakins JW; Snedden W
Clin Chim Acta; 1976 Dec; 73(3):513-9. PubMed ID: 1000869
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
Koeberl DD; Millington DS; Smith WE; Weavil SD; Muenzer J; McCandless SE; Kishnani PS; McDonald MT; Chaing S; Boney A; Moore E; Frazier DM
J Inherit Metab Dis; 2003; 26(1):25-35. PubMed ID: 12872837
[TBL] [Abstract][Full Text] [Related]
16. Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
Baykal T; Gokcay GH; Ince Z; Dantas MF; Fowler B; Baumgartner MR; Demir F; Can G; Demirkol M
J Inherit Metab Dis; 2005; 28(2):229-33. PubMed ID: 15877210
[TBL] [Abstract][Full Text] [Related]
17. Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
Erasmus C; Mienie LJ; Reinecke CJ; Wadman SK
J Inherit Metab Dis; 1985; 8 Suppl 2():105-6. PubMed ID: 3930851
[No Abstract] [Full Text] [Related]
18. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Baumgartner MR; Dantas MF; Suormala T; Almashanu S; Giunta C; Friebel D; Gebhardt B; Fowler B; Hoffmann GF; Baumgartner ER; Valle D
Am J Hum Genet; 2004 Nov; 75(5):790-800. PubMed ID: 15359379
[TBL] [Abstract][Full Text] [Related]
19. L-carnitine therapy in isovaleric acidemia.
Roe CR; Millington DS; Maltby DA; Kahler SG; Bohan TP
J Clin Invest; 1984 Dec; 74(6):2290-5. PubMed ID: 6549017
[TBL] [Abstract][Full Text] [Related]
20. 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
Narisawa K; Gibson KM; Sweetman L; Nyhan WL
Clin Chim Acta; 1989 Sep; 184(1):57-64. PubMed ID: 2480857
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
