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Bifunctional peroxisomal enzyme deficiency

Known as: Pseudo-Zellweger Syndrome, Multifunctional Enzyme Deficiency, Peroxisomal bifunctional enzyme complex deficiency 
A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in… 
National Institutes of Health

Related topics

Related topics

19 relations
Autosomal recessive inheritanceByzanthine arch palateClaw handCongenital clubfoot

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Bifunctional RuII -Complex-Catalysed Tandem C-C Bond Formation: Efficient and Atom Economical Strategy for the Utilisation of Alcohols as Alkylating Agents.
Catalytic activities of a series of functional bipyridine-based RuII complexes in β-alkylation of secondary alcohols using… 
Review
2013
Review
2013
Asymmetric organocatalysis mediated by α,α-L-diaryl prolinols: recent advances.
This feature article illustrates progress in asymmetric organocatalysis achieved by using readily available α,α-L-diaryl… 
Highly Cited
2010
Highly Cited
2010
Paenibacillus sp. Strain E18 Bifunctional Xylanase-Glucanase with a Single Catalytic Domain
ABSTRACT Xylanases are utilized in a variety of industries for the breakdown of plant materials. Most native and engineered… 
Highly Cited
2010
Highly Cited
2010
Bifunctional thiourea-promoted cascade aza-Michael-Henry-dehydration reactions: asymmetric preparation of 3-nitro-1,2-dihydroquinolines.
A cascade aza-Michael-Henry-dehydration reaction catalyzed by quinidine-derived tertiary amine-thiourea catalyst was developed… 
Review
2006
Review
2006
Design of hypoxia-targeting drugs as new cancer chemotherapeutics.
The tumor microenvironment is now recognized as a major factor that influences not only the response to conventional anti-cancer… 
Highly Cited
2005
Highly Cited
2005
Bifunctional organocatalysts for enantioselective aza-Morita-Baylis-Hillman reaction.
The efficient and novel bifunctional organocatalyst for the enantioselective aza-Morita-Baylis-Hillman (aza-MBH) reaction has… 
Highly Cited
2004
Highly Cited
2004
Me2AlCH2PMe2: a new, bifunctional cocatalyst for the Ni(II)-catalyzed oligomerization of PhSiH3.
The role of methylaluminoxane (MAO) in the Ni-catalyzed dehydrogenative homologation of PhSiH3 has been investigated with a view… 
Highly Cited
2003
Highly Cited
2003
A novel lipid hydroperoxide-derived modification to arginine.
The guanidine group present in the amino acid arginine was found to react with the lipid hydroperoxide-derived bifunctional… 
Highly Cited
1999
Highly Cited
1999
Covalent modifications to 2'-deoxyguanosine by 4-oxo-2-nonenal, a novel product of lipid peroxidation.
Two major products (adducts A and B) from the reaction of 2-deoxyguanosine (dGuo) with 13-hydroperoxylinoleic acid were detected… 
Highly Cited
1972
Highly Cited
1972
[57] Bifunctional reagents.
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