Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

D-Bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe disorder of peroxisomal fatty acid oxidation. Nonspecific clinical features may contribute to diagnostic challenges. We describe a newborn female with infantile-onset seizures and nonspecific mild dysmorphisms w...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Khromykh, Alina, Solomon, Benjamin D., Bodian, Dale L., Leon, Eyby L., Iyer, Ramaswamy K., Baker, Robin L., Ascher, David P., Baveja, Rajiv, Vockley, Joseph G., Niederhuber, John E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698652/
https://ncbi.nlm.nih.gov/pubmed/26733776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000433621
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