Nancy G Slate
Overview
Explore the profile of Nancy G Slate including associated specialties, affiliations and a list of published articles.
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4
Citations
203
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Recent Articles
1.
Lieber D, Hershman S, Slate N, Calvo S, Sims K, Schmahmann J, et al.
BMC Med Genet
. 2014 Mar;
15:30.
PMID: 24602372
Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound...
2.
Lieber D, Calvo S, Shanahan K, Slate N, Liu S, Hershman S, et al.
Neurology
. 2013 Apr;
80(19):1762-70.
PMID: 23596069
Objective: To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity. Methods: We considered a diverse set of...
3.
Lieber D, Vafai S, Horton L, Slate N, Liu S, Borowsky M, et al.
BMC Med Genet
. 2012 Jan;
13:3.
PMID: 22226368
Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these...
4.
Shaham O, Slate N, Goldberger O, Xu Q, Ramanathan A, Souza A, et al.
Proc Natl Acad Sci U S A
. 2010 Jan;
107(4):1571-5.
PMID: 20080599
Mutations in either the mitochondrial or nuclear genomes can give rise to respiratory chain disease (RCD), a large class of devastating metabolic disorders. Their clinical management is challenging, in part...