Bifunctional Enzyme Deficiency Pages on BioPortfolio:

BioPortfolio - CYP17A1 - cytochrome P450, family 17, subfamily A ...
Isolated 17,20-Lyase Deficiency due to the Cytochrome b5 Mutation W27X. Context: Cytochrome P450c17 (P450c17) is a bifunctional enzyme necessary. ...
http://www.bioportfolio.com/gene/1586-CYP17A1.html...

BioPortfolio's Metabolic and Nutritional News Feed
Artificial Feeding Nutritional Support · Ascorbic Acid Deficiency · Avitaminosis · Bifunctional Enzyme Deficiency · Binge Eating Eating Disorders ...
http://www.bioportfolio.co.uk/news/metabolic.shtml...

BioPortfolio's Genetic Abnormality Conditions News Feed
Bifunctional Enzyme Deficiency ... Factor XIII Deficiency ... Glucosephosphate Dehydrogenase Deficiency · Glycogen Storage Disease Type II ...
http://www.bioportfolio.co.uk/news/genetic_ab.html...

BioPortfolio - Tetrahydrofolates - InDepth
Folate deficiency is linked to serious birth defects, pregnancy...6th January, 2010 ... The plant-like, bifunctional dihydrofolate reductase-thymidylate ...
Serine hydroxymethyltransferase (SHMT) is a ubiquitous enzyme required ...
http://www.bioportfolio.com/indepth/Tetrahydrofolates.pdf...

BioPortfolio's Rare Diseases News Feed
Bifunctional Enzyme Deficiency · Bile Duct Neoplasms · Biliary Tract Neoplasms · Bladder Neoplasms · Blast Crisis · Blastomycosis · Blood Platelet Disorders ...
http://www.bioportfolio.co.uk/news/rare.shtml...

BioPortfolio - Zellweger Syndrome - InDepth
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ... Role of an ancestral d-bifunctional protein containing two sterol-carrier ... 7485435
- Simultaneous detection of metabolic enzyme activity and metabolite levels ...
http://www.bioportfolio.com/indepth/Zellweger_Syndrome.pdf...

BioPortfolio's Brain and Nervous Diseases Specialized Searches
Bifunctional Enzyme Deficiency · Blindness · Botulism · Bovine Spongiform Encephalopathy Creutzfeldt-Jakob Disease · Brachial Plexus Injuries Peripheral
...
http://www.bioportfolio.co.uk/web/brain.html...

Results from other life science and pharmaceutical sites:

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/...

D-Bifunctional Protein Deficiency - Wikipedia, the free encyclopedia
DBP is a stereospecific enzyme; hydratase domain forms only (R)-hydroxy-acyl-CoA ... "Identification of a new type of D-bifunctional protein deficiency". ...
http://en.wikipedia.org/wiki/D-Bifunctional_Protein_Deficien...

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/...

AJHG - Mutational Spectrum of d-Bifunctional Protein Deficiency ...
We found that both the protein and the enzyme activity of the d-bifunctional ... This seems to be the first report of d-bifunctional protein deficiency. ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)60810-6...

[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...

AJHG - Folate Receptor Alpha Defect Causes Cerebral Folate ...
Structural studies of this bifunctional enzyme and its monofunctional domains will .... are presently known, all of which cause systemic folate deficiency.
...
http://www.cell.com/AJHG/abstract/S0002-9297(09)00348-6...

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...

AJHG - Peroxisomal Bifunctional Protein Deficiency Revisited ...
Mutational Spectrum of d-Bifunctional Protein Deficiency and. ... group of single–peroxisomal β-oxidation–enzyme deficiencies is limited to straight-chain
...
http://www.cell.com/AJHG/abstract/S0002-9297(07)61662-0...

HSD17B4 - Wikipedia, the free encyclopedia
"Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.". Proc
. ...
http://en.wikipedia.org/wiki/HSD17B4...

Molecular Cell - 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase ...
This seems to be the first report of -bifunctional protein deficiency. ... basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. ...
http://www.cell.com/molecular-cell/abstract/S0002-9297(07)60...

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