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Items: 1 to 20 of 92

1.

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

IJlst L, Oostheim W, Ruiter JP, Wanders RJ.

J Inherit Metab Dis. 1997 Jul;20(3):420-2. No abstract available.

PMID:
9266371
3.

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.

4.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Ijlst L, Uskikubo S, Kamijo T, Hashimoto T, Ruiter JP, de Klerk JB, Wanders RJ.

J Inherit Metab Dis. 1995;18(2):241-4. No abstract available.

PMID:
7564258
6.

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
7.

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Holub M, Bodamer OA, Item C, Mühl A, Pollak A, Stöckler-Ipsiroglu S.

Acta Paediatr. 2005 Jan;94(1):48-52.

PMID:
15858960
8.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ.

Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33.

9.

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.

10.

Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.

Fukuda S, Suzuki Y, Shimozawa N, Zhang Z, Orii T, Aoyama T, Hashimoto T, Kondo N.

J Inherit Metab Dis. 1998 Feb;21(1):23-8.

PMID:
9501266
11.
13.

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS.

Ann Clin Lab Sci. 2009 Fall;39(4):399-404.

PMID:
19880769
15.

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Hagenfeldt L, Venizelos N, von Döbeln U.

J Inherit Metab Dis. 1995;18(2):245-8. No abstract available.

PMID:
7564259
16.

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.

Hum Mol Genet. 1999 Aug;8(8):1509-16.

PMID:
10400999
17.

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Baskin B, Geraghty M, Ray PN.

Am J Med Genet A. 2010 Jul;152A(7):1808-11. doi: 10.1002/ajmg.a.33462.

PMID:
20583174
18.

[Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency].

Uchiyama A, Yamaguchi S.

Nihon Rinsho. 2002 Apr;60 Suppl 4:730-3. Review. Japanese. No abstract available.

PMID:
12013985
19.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM.

Pediatr Res. 1991 Apr;29(4 Pt 1):406-11.

PMID:
1830138
20.

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.

Isaacs JD Jr, Sims HF, Powell CK, Bennett MJ, Hale DE, Treem WR, Strauss AW.

Pediatr Res. 1996 Sep;40(3):393-8.

PMID:
8865274

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