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

@inproceedings{McMillan2012SpecificCO,
  title={Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency},
  author={Hugh J McMillan and Thea Worthylake and Jeremy Schwartzentruber and Chloe C. Gottlieb and Sarah E Lawrence and Alex E Mackenzie and Chandree L. Beaulieu and Petra A W Mooyer and Ronald Wanders and Jacek Majewski and Dennis E. Bulman and Michael T. Geraghty and Sacha Ferdinandusse and Kym M. Boycott},
  booktitle={Orphanet journal of rare diseases},
  year={2012}
}
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 delay, absent language development, and severe hearing and visual impairment. DBP contains three catalytically active domains; an N-terminal dehydrogenase, a central hydratase and a C-terminal sterol… CONTINUE READING
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