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Items: 1 to 20 of 115

1.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT.

Orphanet J Rare Dis. 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98.

2.

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD.

J Inherit Metab Dis. 2012 May;35(3):437-42. doi: 10.1007/s10545-011-9381-x. Epub 2011 Aug 24.

PMID:
21863277
3.

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM.

J Inherit Metab Dis. 2000 Jul;23(5):497-504.

PMID:
10947204
4.

Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.

Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C.

Mol Genet Metab. 1998 Sep;65(1):35-43.

PMID:
9787093
6.

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.

J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.

PMID:
21785126
8.

Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?

Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL.

J Inherit Metab Dis. 1993;16(3):563-7. No abstract available.

PMID:
7609453
9.

[Methylmalonic semialdehyde dehydrogenase deficiency].

Yoshida I.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):320-2. Review. Japanese. No abstract available.

PMID:
9590057
10.

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y.

Brain Dev. 2016 Jan;38(1):61-7. doi: 10.1016/j.braindev.2015.05.002. Epub 2015 May 28.

PMID:
26028457
11.
12.
13.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.

J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.

PMID:
19058814
14.

[Malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiency].

Kouwaki M, Wada Y.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):238-40. Review. Japanese. No abstract available.

PMID:
9590035
15.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.

Hum Mutat. 2006 Jul;27(7):640-3.

PMID:
16752391
16.

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):410-4. Chinese.

PMID:
22931934
17.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).

Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.

Hum Mutat. 2007 Oct;28(10):1045.

PMID:
17823972
18.

Regulation of enzymatic activity by active site fatty acylation. A new role for long chain fatty acid acylation of proteins.

Berthiaume L, Deichaite I, Peseckis S, Resh MD.

J Biol Chem. 1994 Mar 4;269(9):6498-505.

19.

Proteome approach to characterize the methylmalonate-semialdehyde dehydrogenase that is regulated by gibberellin.

Tanaka N, Takahashi H, Kitano H, Matsuoka M, Akao S, Uchimiya H, Komatsu S.

J Proteome Res. 2005 Sep-Oct;4(5):1575-82.

PMID:
16212409
20.

Methylmalonate-semialdehyde dehydrogenase from Bacillus subtilis: substrate specificity and coenzyme A binding.

Talfournier F, Stines-Chaumeil C, Branlant G.

J Biol Chem. 2011 Jun 24;286(25):21971-81. doi: 10.1074/jbc.M110.213280. Epub 2011 Apr 22.

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