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2. 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]
3. 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]
4. 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]
5. The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. Friebel D; von der Hagen M; Baumgartner ER; Fowler B; Hahn G; Feyh P; Heubner G; Baumgartner MR; Hoffmann GF Neuropediatrics; 2006 Apr; 37(2):72-8. PubMed ID: 16773504 [TBL] [Abstract][Full Text] [Related]
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11. 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]
12. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Holzinger A; Röschinger W; Lagler F; Mayerhofer PU; Lichtner P; Kattenfeld T; Thuy LP; Nyhan WL; Koch HG; Muntau AC; Roscher AA Hum Mol Genet; 2001 Jun; 10(12):1299-306. PubMed ID: 11406611 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Cho SY; Park HD; Lee YW; Ki CS; Lee SY; Sohn YB; Park SW; Kim SH; Ji S; Kim SJ; Choi EW; Kim CH; Ko AR; Paik KH; Lee DH; Jin DK Clin Genet; 2012 Jan; 81(1):96-8. PubMed ID: 22150417 [No Abstract] [Full Text] [Related]
15. 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]
16. 3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. Visser G; Suormala T; Smit GP; Reijngoud DJ; Bink-Boelkens MT; Niezen-Koning KE; Baumgartner ER Eur J Pediatr; 2000 Dec; 159(12):901-4. PubMed ID: 11131348 [TBL] [Abstract][Full Text] [Related]