Abstract

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The overall hypothesis is that enigmatic clinical outcomes in patients with galactosemia who have identical molecular and biochemical mutations in red blood cell galactose-1-phosphate uridyltransferase (GALT) are caused by alternative pathways and organ-specific impairment for galactose metabolism. This hypothesis will be tested by quantitative and qualitative comparisons of in vivo galactose metabolic pathways in patients with galactosemia who are homozygous for the Q188R mutation, and have other defined mutations.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000039-46
Application #
7376389
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2005-12-01
Project End
2006-11-30
Budget Start
2005-12-01
Budget End
2006-11-30
Support Year
46
Fiscal Year
2006
Total Cost
$744
Indirect Cost

  Institution

Name
Emory University
Department
Dermatology
Type
Schools of Medicine
DUNS #
066469933
City
Atlanta
State
GA
Country
United States
Zip Code
30322

  Publications

Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
Logue, Mark W; van Rooij, Sanne J H; Dennis, Emily L et al. (2018) Smaller Hippocampal Volume in Posttraumatic Stress Disorder: A Multisite ENIGMA-PGC Study: Subcortical Volumetry Results From Posttraumatic Stress Disorder Consortia. Biol Psychiatry 83:244-253
McKenzie, Katelyn A; El Ters, Mirelle; Torres, Vicente E et al. (2018) Relationship between caffeine intake and autosomal dominant polycystic kidney disease progression: a retrospective analysis using the CRISP cohort. BMC Nephrol 19:378
Dad, Taimur; Abebe, Kaleab Z; Bae, K Ty et al. (2018) Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease. Kidney Int Rep 3:619-624
O'Connell, Chloe P; Goldstein-Piekarski, Andrea N; Nemeroff, Charles B et al. (2018) Antidepressant Outcomes Predicted by Genetic Variation in Corticotropin-Releasing Hormone Binding Protein. Am J Psychiatry 175:251-261
Yu, Alan S L; Shen, Chengli; Landsittel, Douglas P et al. (2018) Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease. Kidney Int 93:691-699
Stevens, Jennifer S; Reddy, Renuka; Kim, Ye Ji et al. (2018) Episodic memory after trauma exposure: Medial temporal lobe function is positively related to re-experiencing and inversely related to negative affect symptoms. Neuroimage Clin 17:650-658
Huang, Yunfeng; Hui, Qin; Walker, Douglas I et al. (2018) Untargeted metabolomics reveals multiple metabolites influencing smoking-related DNA methylation. Epigenomics 10:379-393
Nowak, Kristen L; You, Zhiying; Gitomer, Berenice et al. (2018) Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 29:571-578
Lin, Cliff; Michopoulos, Vasiliki; Powers, Abigail et al. (2018) Affect, inflammation, and health in urban at-risk civilians. J Psychiatr Res 104:24-31

Showing the most recent 10 out of 675 publications