Peroxisomal D-Bifunctional Protein Deficiency

2005 ◽  
pp. 167-171 ◽  
Keyword(s):  
Protein Deficiency ◽  
Bifunctional Protein

scholarly journals Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency

2016 ◽  
Vol 2 (6) ◽  
pp. e114 ◽  
Author(s):  
David J. Amor ◽  
Ashley P.L. Marsh ◽  
Elsdon Storey ◽  
Rick Tankard ◽  
Greta Gillies ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Bifunctional Protein

D-bifunctional protein deficiency, a novel mutation

2015 ◽  
Vol 06 (04) ◽  
pp. 357-360
Author(s):  
Rania Dib ◽  
Pascale Karam ◽  
Mohamad Mikati ◽  
Steven Steinberg ◽  
Mohamad Habbal
Keyword(s):  
Novel Mutation ◽  
Protein Deficiency ◽  
Bifunctional Protein

scholarly journals Molecular basis of D-bifunctional protein deficiency

2009 ◽  
Vol 65 (a1) ◽  
pp. s142-s142
Author(s):  
Maija Malin ◽  
Laura Pietikäinen ◽  
Kalervo Hiltunen ◽  
Tuomo Glumoff
Keyword(s):  
Molecular Basis ◽  
Protein Deficiency ◽  
Bifunctional Protein

D-bifunctional protein deficiency associated with drug resistant infantile spasms

2007 ◽  
Vol 29 (1) ◽  
pp. 51-54 ◽  
Author(s):  
Sabrina Buoni ◽  
Raffaella Zannolli ◽  
Hans Waterham ◽  
Ronald Wanders ◽  
Alberto Fois
Keyword(s):  
Infantile Spasms ◽  
Protein Deficiency ◽  
Drug Resistant ◽  
Bifunctional Protein

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall

2005 ◽  
Vol 28 (6) ◽  
pp. 1172-1174 ◽  
Author(s):  
R. J. Soorani-Lunsing ◽  
F. J. van Spronsen ◽  
I. Stolte-Dijkstra ◽  
R. J. Wanders ◽  
S. Ferdinandusse ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Protein Deficiency ◽  
Long Chain Fatty Acids ◽  
Bifunctional Protein ◽  
Diagnostic Pitfall ◽  
Long Chain ◽  
Chain Fatty Acids

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

2003 ◽  
Vol 79 (4) ◽  
pp. 281-287 ◽  
Author(s):  
Sacha Ferdinandusse ◽  
Barbara Finckh ◽  
Yvette C de Hingh ◽  
Lida E.M Stroomer ◽  
Simone Denis ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Protein Deficiency ◽  
Bifunctional Protein

scholarly journals Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

2015 ◽  
Vol 6 (3) ◽  
pp. 141-146 ◽  
Author(s):  
Alina Khromykh ◽  
Benjamin D. Solomon ◽  
Dale L. Bodian ◽  
Eyby L. Leon ◽  
Ramaswamy K. Iyer ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Cost Effective ◽  
Protein Deficiency ◽  
Whole Genome ◽  
Bifunctional Protein ◽  
Effective Care
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