Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Papers: 10.1186/1750-1172-7-90
https://doi.org/10.1186/1750-1172-7-90
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Cited by: 58
Author(s): Hugh J. McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe Gottlieb, Sarah Lawrence, Alex MacKenzie, Chandree L. Beaulieu, Petra Mooyer, Ronald J. A. Wanders, Jacek Majewski, Dennis E. Bulman, Michael T. Geraghty, Sacha Ferdinandusse, Kym M. Boycott
Published: almost 12 years ago