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Items: 1 to 20 of 104

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
2.

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
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.
8.

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
9.

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

Lundy CT, Shield JP, Kvittingen EA, Vinorum OJ, Trimble ER, Morris AA.

J Inherit Metab Dis. 2003;26(6):537-41.

PMID:
14605499
10.

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
11.

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.

13.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3.

PMID:
20814823
15.

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.

16.
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18.

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW.

J Clin Invest. 1995 May;95(5):2076-82.

19.

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
20.

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

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