Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

BACKGROUND: D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor...

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Autors principals: McMillan, Hugh J, Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C, Lawrence, Sarah E, MacKenzie, Alex, Beaulieu, Chandree L, Mooyer, Petra A W, Wanders, Ronald J A, Majewski, Jacek, Bulman, Dennis E, Geraghty, Michael T, Ferdinandusse, Sacha, Boycott, Kym M
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3551712/
https://ncbi.nlm.nih.gov/pubmed/23181892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-90
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