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.
3. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Ficicioglu C; Payan I Pediatrics; 2006 Dec; 118(6):2555-6. PubMed ID: 17142544 [TBL] [Abstract][Full Text] [Related]
4. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. Steen C; Baumgartner ER; Duran M; Lehnert W; Suormala T; Fingerhut R; Stehn M; Kohlschütter A Eur J Pediatr; 1999 Sep; 158(9):730-3. PubMed ID: 10485305 [TBL] [Abstract][Full Text] [Related]
5. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. Gibson KM; Bennett MJ; Naylor EW; Morton DH J Pediatr; 1998 Mar; 132(3 Pt 1):519-23. PubMed ID: 9544913 [TBL] [Abstract][Full Text] [Related]
6. 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]
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. Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. Robbins KA; León-Ruiz EN Anesth Analg; 2008 Aug; 107(2):648-50. PubMed ID: 18633047 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
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]
13. 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]
14. 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]
15. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Wolfe LA; Finegold DN; Vockley J; Walters N; Chambaz C; Suormala T; Koch HG; Matern D; Barshop BA; Cropcho LJ; Baumgartner MR; Gibson KM Pediatrics; 2007 Nov; 120(5):e1335-40. PubMed ID: 17908719 [TBL] [Abstract][Full Text] [Related]
16. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. Oude Luttikhuis HG; Touati G; Rabier D; Williams M; Jakobs C; Saudubray JM J Inherit Metab Dis; 2005; 28(6):1136-8. PubMed ID: 16435207 [TBL] [Abstract][Full Text] [Related]
17. Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. Dirik E; Yiş U; Paşaoğlu G; Chambaz C; Baumgartner MR Brain Dev; 2008 Mar; 30(3):218-20. PubMed ID: 17869468 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria. Gompertz D; Bartlett K; Blair D; Stern CM Arch Dis Child; 1973 Dec; 48(12):975-7. PubMed ID: 4765660 [No Abstract] [Full Text] [Related] [Next] [New Search]