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Results: 1 to 20 of 136

1.
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
[PubMed - indexed for MEDLINE]
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.

PMID:
10352164
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
9396725
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
16423905
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
8.
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
12.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5.

PMID:
7846063
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T.

Am J Hum Genet. 1996 May;58(5):979-88.

PMID:
8651282
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
8163672
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.

Yang Z, Yamada J, Zhao Y, Strauss AW, Ibdah JA.

JAMA. 2002 Nov 6;288(17):2163-6.

PMID:
12413376
[PubMed - indexed for MEDLINE]

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