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25. Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult. Boneh A; Baumgartner M; Hayman M; Peters H J Inherit Metab Dis; 2005; 28(6):1139-40. PubMed ID: 16435208 [TBL] [Abstract][Full Text] [Related]
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27. 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]
28. 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]
29. 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]
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31. Biotin-reversible neurodegenerative disease in infancy. Low LC; Stephenson JB; Bartlett K; Seakins JW; Shaikh SA Aust Paediatr J; 1986 Feb; 22(1):65-8. PubMed ID: 3087340 [TBL] [Abstract][Full Text] [Related]
32. 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]
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34. 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]
35. 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]
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37. Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. Murayama K; Kimura M; Yamaguchi S; Shinka T; Kodama K Brain Dev; 1997 Jun; 19(4):303-5. PubMed ID: 9187484 [TBL] [Abstract][Full Text] [Related]
39. 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]