1 |
Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, et al. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet 2007;52:1040-3.
DOI
|
2 |
Gallardo ME, Desviat LR, Rodrigues JM, Esparza-Gordillo J, Perez-Cerda C, Perez B, et al. The molecular basis of 3-methlcrotonylglycinuria, a disorder of leucine catabolsim. Am J Hum Genet 2001;68:334-6.
DOI
|
3 |
Beemer FA, Bartlett K, Duran M, Ghneim HK, Wadman SK, Bruinvis L, et al. Isolated biotinresistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 1982;138:351-4.
DOI
|
4 |
Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen OP, Suormala T, et al. Isolated (biotinresistant) 3-methylcrotonyl-CoA carboxylase deficiency: Four sibs devoid of pathology. J Inherit Metab Dis 1995;18:643-5.
DOI
|
5 |
Pearson MA, Aleck KA, Heidenreich RA. Benign clinical presentation of 3-methylglycinuria. J Inherit Metab Dis 1995;18:640-1.
DOI
|
6 |
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008,93:363-70.
DOI
|
7 |
Oude Luttikhuis HG, Touati G, Rabier D, Williams M, Jakobs C, Saudubray JM. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. J Inherit Metab Dis 2005,28:1136-8.
DOI
|
8 |
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008,93:363-70.
DOI
|
9 |
Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999;14:S4-8.
DOI
|
10 |
Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, et al. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis 2003;26:25-35.
DOI
|
11 |
Roscher AA, Liebl B, Fingerhut R, Olgemoller B. Prospective study of MSMS newborn screening in Bavaria, Germany. J Inherit Metab Dis 2000;23:4.
|
12 |
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111:1399-406.
DOI
|
13 |
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl JMed 2003;348:2304-12.
DOI
|
14 |
Holzinger A, Roschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, et al. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet 2001;10:1299-306.
DOI
|
15 |
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001;107:495-504.
DOI
|
16 |
Bannwart C, Wermuth B, Baumgartner R, Suormala T, Wiesmann UN. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 1992;15:863-8.
DOI
|
17 |
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006;27:748-59.
DOI
|
18 |
Dodelson de Kremer R, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, et al. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metabolic Brain Disease 2002;17:13-8.
DOI
|
19 |
Baykal T, Huner Gokcay G, Ince Z, Dantas MF, Fowler B, Baumgartner MR, et al. 3-methylcrotonyl-CoA carboxylase deficiency with early onset necrotizing encephalopathy and lethal outcome. J Inherit Metab Dis 2005;28:229-33.
DOI
|
20 |
Gibson KM, Bennett MJ, Naylor EW, Morton DH. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 1998,132:519-23.
DOI
|
21 |
DantasMF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat 2005;26:164.
|
22 |
SY Cho, H-D Park, Y-W Lee, C-S Ki, S-Y Lee, YB Sohn, et al. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Clin Genet 2012;81:96-8.
DOI
|
23 |
Visser G, Suormala T, Smit GP, Reijngoud DJ, Bink-Boelkens MT, Niezen-Koning KE, et al. 3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. Eur J Pediatr 2000;159:901-4.
DOI
|
24 |
Sarah C Grunert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Burer, Patricie Burda, et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
25 |
Sweetman L, Williams JC. Branched chain organic acidurias. In In The Metabolic & Molecular Bases of Inherited Disease. 8th edition. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw Hill; 2001:2125-63.
|
26 |
Eminoglu FT, Ozcelik AA, Okur I, Tumer L, Biberoglu G, Demir E, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. J Child Neurol 2009,24:478-81.
DOI
|