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Items: 1 to 20 of 189

1.

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. Epub 2007 Sep 14.

PMID:
17869468
2.

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. Epub 2004 Sep 9.

3.

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.

PMID:
15877210
4.

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.

PMID:
16773504
5.

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. Epub 2007 Oct 1.

PMID:
17908719
6.

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.

PMID:
11131348
7.

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.

PMID:
16435207
8.

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM.

J Inherit Metab Dis. 2003;26(1):25-35.

PMID:
12872837
9.

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR.

Hum Mutat. 2005 Aug;26(2):164.

PMID:
16010683
10.

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T.

J Hum Genet. 2007;52(12):1040-3. Epub 2007 Oct 30.

PMID:
17968484
11.

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF.

J Inherit Metab Dis. 2007 Aug;30(4):507-14. Epub 2007 Mar 8.

PMID:
17347912
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 1;10(12):1299-306.

PMID:
11406611
13.

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.

PMID:
9187484
14.

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR.

J Inherit Metab Dis. 2005;28(3):301-9. Review.

PMID:
15868465
15.

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.

Wiesmann UN, Suormala T, Pfenninger J, Baumgartner ER.

Eur J Pediatr. 1998 Mar;157(3):225-9.

PMID:
9537490
16.

Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.

Rodríguez JM, Ruíz-Sala P, Ugarte M, Peñalva MA.

J Biol Chem. 2004 Feb 6;279(6):4578-87. Epub 2003 Nov 11.

17.

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS.

J Inherit Metab Dis. 1995;18(5):592-601.

PMID:
8598640
18.

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.

PMID:
16435208
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.

PMID:
8831079
20.

3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.

Eminoglu FT, Ozcelik AA, Okur I, Tumer L, Biberoglu G, Demir E, Hasanoglu A, Baumgartner MR.

J Child Neurol. 2009 Apr;24(4):478-81. doi: 10.1177/0883073808324536.

PMID:
19339287

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