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12. 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]
13. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. Kör D; Mungan NÖ; Yılmaz BŞ; Öktem M J Pediatr Endocrinol Metab; 2015 May; 28(5-6):669-71. PubMed ID: 25381946 [TBL] [Abstract][Full Text] [Related]
14. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Arnold GL; Koeberl DD; Matern D; Barshop B; Braverman N; Burton B; Cederbaum S; Fiegenbaum A; Garganta C; Gibson J; Goodman SI; Harding C; Kahler S; Kronn D; Longo N Mol Genet Metab; 2008 Apr; 93(4):363-70. PubMed ID: 18155630 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. Al-Odaib A; Rashed M; Page T; Nyhan W; Ozand PT Saudi Med J; 2006 May; 27(5):732-3. PubMed ID: 16680273 [No Abstract] [Full Text] [Related]
18. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease. Ihara K; Kuromaru R; Inoue Y; Kuhara T; Matsumoto I; Yoshino M; Fukushige J Eur J Pediatr; 1997 Sep; 156(9):713-5. PubMed ID: 9296536 [TBL] [Abstract][Full Text] [Related]
19. 3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. Darin N; Andersen O; Wiklund LM; Holmgren D; Holme E Pediatr Neurol; 2007 Feb; 36(2):132-4. PubMed ID: 17275669 [TBL] [Abstract][Full Text] [Related]
20. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Forsyth R; Vockley CW; Edick MJ; Cameron CA; Hiner SJ; Berry SA; Vockley J; Arnold GL; Mol Genet Metab; 2016 May; 118(1):15-20. PubMed ID: 27033733 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]