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Items: 1 to 20 of 146

2.

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW.

Hum Mutat. 2003 Jun;21(6):598-607.

PMID:
12754706
4.

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW.

N Engl J Med. 1999 Jun 3;340(22):1723-31.

5.

Reconstitution, morphology and crystallization of a fatty acid beta-oxidation multienzyme complex from Pseudomonas fragi.

Ishikawa M, Mikami Y, Usukura J, Iwasaki H, Shinagawa H, Morikawa K.

Biochem J. 1997 Dec 15;328 ( Pt 3):815-20.

6.

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.

Das AM, Illsinger S, L├╝cke T, Hartmann H, Ruiter JP, Steuerwald U, Waterham HR, Duran M, Wanders RJ.

Clin Chem. 2006 Mar;52(3):530-4. Epub 2006 Jan 19.

7.

Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.

Fould B, Garlatti V, Neumann E, Fenel D, Gaboriaud C, Arlaud GJ.

Biochemistry. 2010 Oct 5;49(39):8608-17. doi: 10.1021/bi100742w. Epub 2010 Sep 8.

PMID:
20825197
10.

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M.

J Inherit Metab Dis. 2005;28(4):533-44.

PMID:
15902556
11.

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T.

Hum Mol Genet. 1997 Aug;6(8):1215-24.

PMID:
9259266
12.

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK.

Pediatr Res. 1999 Jul;46(1):45-9.

PMID:
10400133
13.
14.

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M.

Hum Mutat. 2002 Dec;20(6):447-51.

PMID:
12442268
15.

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M.

Mol Genet Metab. 2011 Dec;104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28.

PMID:
22000755
17.

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Kamijo T, Wanders RJ, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T.

J Clin Invest. 1994 Apr;93(4):1740-7.

18.

beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.

Venizelos N, Ijlst L, Wanders RJ, Hagenfeldt L.

Pediatr Res. 1994 Jul;36(1 Pt 1):111-4.

PMID:
7936829
19.

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

Kamijo T, Aoyama T, Komiyama A, Hashimoto T.

Biochem Biophys Res Commun. 1994 Mar 15;199(2):818-25.

PMID:
8135828
20.

The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.

Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW.

J Inherit Metab Dis. 2004;27(2):294-6.

PMID:
15243991

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