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Year | Number of Results |
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1995 | 1 |
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Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
J Clin Invest. 1998 Sep 15;102(6):1193-9. doi: 10.1172/JCI2091.
J Clin Invest. 1998.
PMID: 9739053
Free PMC article.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
IJlst L, Oostheim W, Ruiter JP, Wanders RJ.
IJlst L, et al.
J Inherit Metab Dis. 1997 Jul;20(3):420-2. doi: 10.1023/a:1005310903004.
J Inherit Metab Dis. 1997.
PMID: 9266371
No abstract available.
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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
IJlst L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ.
IJlst L, et al.
J Clin Invest. 1996 Aug 15;98(4):1028-33. doi: 10.1172/JCI118863.
J Clin Invest. 1996.
PMID: 8770876
Free PMC article.
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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.
Sims HF, et al.
Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5. doi: 10.1073/pnas.92.3.841.
Proc Natl Acad Sci U S A. 1995.
PMID: 7846063
Free PMC article.
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Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T.
IJlst L, et al.
Biochim Biophys Acta. 1994 Dec 8;1215(3):347-50. doi: 10.1016/0005-2760(94)90064-7.
Biochim Biophys Acta. 1994.
PMID: 7811722
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