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Items: 19

1.

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
2.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W.

Hum Mutat. 2006 Aug;27(8):748-59.

PMID:
16835865
3.

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.

de Kremer RD, Latini A, Suormala T, Baumgartner ER, Laróvere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ.

Metab Brain Dis. 2002 Mar;17(1):13-8.

PMID:
11893004
4.

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
5.

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D.

J Clin Invest. 2001 Feb;107(4):495-504.

6.

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA.

Am J Hum Genet. 2001 Feb;68(2):334-46. Epub 2001 Jan 17.

7.

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A.

Eur J Pediatr. 1999 Sep;158(9):730-3.

PMID:
10485305
8.

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
9.

Benign clinical presentation of 3-methylcrotonylglycinuria.

Pearson MA, Aleck KA, Heidenreich RA.

J Inherit Metab Dis. 1995;18(5):640-1. No abstract available.

PMID:
8598648
10.

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HG.

J Inherit Metab Dis. 1984;7(4):182. No abstract available.

PMID:
6441868
11.

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. No abstract available.

PMID:
5035417
12.

Mitochondrial inclusions in fibroblast culture from a patient with beta-methylcrotonylglycinuria.

McLean J, Stewart G.

J Med Genet. 1974 Sep;11(3):257-9. No abstract available.

13.

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.

Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE.

Lancet. 1970 Sep 5;2(7671):521-2. No abstract available.

PMID:
4194964
14.

Experimental beta-hydroxyisovaleric aciduria induced by biotin deficiency.

Tanaka K, Isselbacher KJ.

Lancet. 1970 Oct 31;2(7679):930-1. No abstract available.

PMID:
4097310
15.

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness.

Layward EM, Tanner MS, Pollitt RJ, Bartlett K.

J Inherit Metab Dis. 1989;12(3):339-40. No abstract available.

PMID:
2515383
16.

Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.

Rolland MO, Divry P, Zabot MT, Guibaud P, Gomez S, Lachaux A, Loras I.

J Inherit Metab Dis. 1991;14(5):838-9. No abstract available.

PMID:
1779635
17.

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.

Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS.

J Pediatr. 1992 Sep;121(3):407-10.

PMID:
1517917
18.

Beta-methylcrotonic aciduria associated with lactic acidosis.

Roth K, Cohn R, Yandrasitz J, Preti G, Dodd P, Segal S.

J Pediatr. 1976 Feb;88(2):229-35.

PMID:
1249684
19.

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