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Abbreviation : DBP
Long Form : D-bifunctional protein
No. Year Title Co-occurring Abbreviation
2020 Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia. CADD, SCAR
2020 First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea. VLCFAs
2020 Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease. ---
2018 Profile of cardiac lipid metabolism in STZ-induced diabetic mice. AOX1, FABP3, GLUT4, PUFAs, THLA, UCP
2017 Functional characterisation of peroxisomal beta-oxidation disorders in fibroblasts using lipidomics. ACBD5, ACOX1, PEDs
2016 Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. ---
2016 Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. VLCFAs
2014 Developmental roles of D-bifunctional protein-A zebrafish model of peroxisome dysfunction. ---
2014 Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. ---
10  2014 Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. VLCFA, VLCPUFA, X-ALD, ZS
11  2013 On the molecular basis of D-bifunctional protein deficiency type III. ---
12  2012 Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 3R-OH-16-CoA, DEAE, E. coli, HPLC, MFE
13  2012 Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. HSD17B4, NGS
14  2011 Analysis of enoyl-coenzyme A hydratase activity and its stereospecificity using high-performance liquid chromatography equipped with chiral separation column. CoA, HPLC, L-BP
15  2010 Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. HSD17B4
16  2010 Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. DBPD, VLCFA
17  2009 Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. DHA, ERG, PBDs, VEPs
18  2008 Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. MRM, PBDs
19  2007 [Effects of activation of liver X receptor and peroxisome proliferator-activated receptor alpha on bile acid synthesis in rats]. CYP7A1, HC, LXR, PPARalpha
20  2006 D-bifunctional protein deficiency associated with drug resistant infantile spasms. ---
21  2006 Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance. ---
22  2006 Fusion and fission, the evolution of sterol carrier protein-2. SCP-2
23  2005 Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. L-BP
24  2005 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. ---
25  2005 [Relationship between the increase of hepatic D-bifunctional protein activity and bile acid biosynthesis in rats]. CYP7A1, DEHP, PPARalpha
26  2004 Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids. DCAs, L-BP, SCOX
27  2004 Plants express a lipid transfer protein with high similarity to mammalian sterol carrier protein-2. AtSCP-2, BODIPY-PC, SCP-2
28  2003 A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency. D-BP HY
29  2003 Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. PBDs, SCOX, TBARS
30  2002 Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes. IRD, LTs, RCDP, X-ALD
31  2002 Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. THIO
32  2001 Clinical consequences of defects in peroxisomal beta-oxidation. ALD, VLCFA
33  2001 Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid. SCOX, SCPx
34  2001 Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. CG