scholarly journals Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

1999 ◽  
Vol 44 (3) ◽  
pp. 143-147 ◽  
Author(s):  
Y. Suzuki ◽  
Zhongyi Zhang ◽  
Nobuyuki Shimozawa ◽  
Masami Muro ◽  
Hideaki Shono ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Protein Deficiency ◽  
Bifunctional Protein ◽  
Hydroxyacyl Coa Dehydrogenase

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

2002 ◽  
Vol 22 (1) ◽  
pp. 38-41 ◽  
Author(s):  
B. C. Paton ◽  
P. B. Solly ◽  
P. V. Nelson ◽  
A. N. Pollard ◽  
P. C. Sharp ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Genomic Dna ◽  
Protein Deficiency ◽  
Bifunctional Protein

scholarly journals d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

1997 ◽  
Vol 61 (5) ◽  
pp. 1153-1162 ◽  
Author(s):  
Yasuyuki Suzuki ◽  
Ling Ling Jiang ◽  
Masayoshi Souri ◽  
Shoko Miyazawa ◽  
Seiji Fukuda ◽  
...  
Keyword(s):  
Peroxisomal Disorder ◽  
Protein Deficiency ◽  
Bifunctional Protein ◽  
Hydroxyacyl Coa Dehydrogenase

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
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