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Items: 4

1.
Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing
Matthew A. Lines, Rebekah Jobling, Lauren Brady, Christian R. Marshall, Stephen W. Scherer, Amadeo R. Rodriguez, Liesly Lee, Anthony E. Lang, Tiago A. Mestre, Ronald J.A. Wanders, Sacha Ferdinandusse, Mark A. Tarnopolsky, On behalf of the Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada)
Neurology. 2014 Mar 18; 82(11): 963–968. doi: 10.1212/WNL.0000000000000219
PMCID:
PMC3963001
AbstractArticlePDF–350K
2.
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex MacKenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott
Orphanet J Rare Dis. 2012; 7: 90. Published online 2012 Nov 22. doi: 10.1186/1750-1172-7-90
PMCID:
PMC3551712
AbstractArticlePDF–1.9M
3.
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Sarah B. Pierce, Karen M. Chisholm, Eric D. Lynch, Ming K. Lee, Tom Walsh, John M. Opitz, Weiqing Li, Rachel E. Klevit, Mary-Claire King
Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16): 6543–6548. Published online 2011 Apr 4. doi: 10.1073/pnas.1103471108
PMCID:
PMC3081023
AbstractArticlePDF–811K
4.
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne M. Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy-Lahad, Rachel E. Klevit, Mary-Claire King
Am J Hum Genet. 2010 Aug 13; 87(2): 282–288. doi: 10.1016/j.ajhg.2010.07.007
PMCID:
PMC2917704
AbstractArticlePDF–538K

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