ArticleNeuroradiology2010
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
Article in Neuroradiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Case Report: D-bifunctional protein deficiency caused by novel compound heterozygoteFrontiers in genetics · 2025Article
- Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.Neurotoxicity research · 2021Review
- Two NovelFrontiers in pediatrics · 2021Article
- Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits.Journal of neuroinflammation · 2019Article
- Neurometabolic disorders and congenital malformations of the central nervous system.Neurosciences (Riyadh, Saudi Arabia) · 2018Review
- Neuronal Dysfunction and Behavioral Abnormalities Are Evoked by Neural Cells and Aggravated by Inflammatory Microglia in Peroxisomal β-Oxidation Deficiency.Frontiers in cellular neuroscience · 2018Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Peroxisomal Disorders: A Review on Cerebellar Pathologies.Brain pathology (Zurich, Switzerland) · 2015Review
- Article
- Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats.Cerebellum (London, England) · 2013Article
- Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.Journal of bioenergetics and biomembranes · 2013Article
- Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.Orphanet journal of rare diseases · 2012Article
- Clinical review of genetic epileptic encephalopathies.European journal of medical genetics · 2012Review
- NovelChild neurology openArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report serial neurodegenerative changes on neuroimaging in a rare peroxisomal disease called D-bifunctional protein deficiency. The pattern of posterior to anterior demyelination with white matter disease resembles X-linked adrenoleukodystrophy. We feel this case is important to (1) highlight that D-bifunctional protein deficiency should be considered in cases where the neuroimaging resembles X-linked adrenoleukodystrophy, (2) to show different stages of progression to help identify this disease using neuroimaging in children, and (3) to show that neuroimaging suggesting a leukodystrophy can warrant peroxisomal beta-oxidation studies in skin fibroblasts even when plasma very long chain fatty acids are normal.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.