Peroxisomal bifunctional enzyme deficiency.
These results indicate that the primary biochemical defect in this patient is a deficiency of peroxisomal bifunctional enzyme. It is of interest that the ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC303746/...
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D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase ...
Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and Bifunctional Enzyme Deficiency with Detectable Enzyme Protein: Identification by Means of ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=17...
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Novel Subtype of Peroxisomal Acyl-CoA Oxidase Deficiency and ...
Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a ... Peroxisomal bifunctional enzyme deficiency. J Clin Invest. ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918057/...
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Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl ...
Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771– 777. [PubMed]. Schram AW, Goldfischer S, van Roermund CW, Brouwer-Kelder EM, ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=29...
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[Peroxisomal D-bifunctional enzyme deficiency. A case report]
[Peroxisomal D-bifunctional enzyme deficiency. A case report]. [Article in Spanish]. Chávez-Torres R, Ruiz-Chávez J, Ruiz-Cruz E, Juárez-Naranjo E, ...
http://www.ncbi.nlm.nih.gov/pubmed/19213219...
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D-Bifunctional Protein Deficiency - Wikipedia, the free encyclopedia
4 Oct 2009 ... DBP is a stereospecific enzyme; hydratase domain forms only ... "D-Bifunctional Protein Deficiency Associated with Drug Resistant Infantile ...
http://en.wikipedia.org/wiki/D-Bifunctional_Protein_Deficien...
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Urinary bile acids and peroxisomal bifunctional enzyme deficiency.
Urinary bile acids and peroxisomal bifunctional enzyme deficiency. Natowicz MR, Evans JE, Kelley RI, Moser AB, Watkins PA, Moser HW. ...
http://www.ncbi.nlm.nih.gov/pubmed/8725785...
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Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase ...
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome. .... Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771– 777 ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=29...
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AJHG - Mutational Spectrum of d-Bifunctional Protein Deficiency ...
We found that both the protein and the enzyme activity of the -bifunctional ... This seems to be the first report of -bifunctional protein deficiency. ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)60810-6...
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Mutational Spectrum of d-Bifunctional Protein Deficiency and ...
DBP deficiency was determined by direct enzyme activity measurements in ...... the enzyme defect and its molecular basis in bifunctional protein deficiency. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=13...
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