ArticleMolecular genetics and metabolism reports2020
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.American journal of human genetics · 2025Article
- Disrupting mitochondrial β-oxidation by depletion of HADHA impairs primary ciliogenesis.Scientific reports · 2025Article
- Peroxisome Dysfunction and Steatotic Liver Disease.International journal of molecular sciences · 2025Review
- HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.Nature communications · 2025Article
- Case Report: D-bifunctional protein deficiency caused by novel compound heterozygoteFrontiers in genetics · 2025Article
- D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.International journal of molecular sciences · 2024Review
- DHA Shortage Causes the Early Degeneration of Photoreceptors and RPE in Mice With Peroxisomal β-Oxidation Deficiency.Investigative ophthalmology & visual science · 2023Article
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.Molecular genetics and metabolism · 2023Article
- Modeling the enigma of complex disease etiology.Journal of translational medicine · 2023Article
- A Computational Framework to Characterize the Cancer Drug Induced Effect on Aging Using Transcriptomic Data.Frontiers in pharmacology · 2022Article
- Two NovelFrontiers in pediatrics · 2021Article
- NovelChild neurology openArticle
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPeroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal seizures, retinopathy, hearing loss, dysmorphic features, and other complications. The PATIENT REPORTS: Patient 1 presented neonatally with hypotonia and seizures, and later on developed global developmental delay and regression, sensorineural hearing loss, nystagmus and cortical blindness. The brain MRI demonstrated bilateral peri-sylvian polymicrogyria. Whole exome sequencing revealed 2 mutations in the DISCUSSION: We describe 4 patients with variable and diverse clinical picture of DBP deficiency and particularly emphasize the clinical, biochemical, and neuroimaging characteristics. Interestingly, the clinical phenotype varied even between patients with the exact two mutations in the
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