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Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
INTRODUCTION: Peroxisomal 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 HSD17B4 gene encodes DBP which is essent...
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| Publicado en: | Mol Genet Metab Rep |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7451421/ https://ncbi.nlm.nih.gov/pubmed/32904102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100631 |
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