Abstract

This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The Gaucher Registry is an ongoing, post-marketing, observational database that tracks outcomes of routine clinical practice for patients with Gaucher disease. Not all patients in the Registry are on Enzyme Replacement Therapy (ERT). All physicians participating in the Registry are considered members of the International Collaborative Gaucher Group (ICGG). Data collected from ICGG physicians will represent Gaucher disease practice patterns under common clinical conditions. Thus, the data collected by this international, collaborative Registry will provide information to better characterize the natural history and progression of Gaucher disease, as well as the clinical responses of patients whose physicians have prescribed ERT.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR006192-15
Application #
7719114
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2008-04-01
Project End
2009-03-31
Budget Start
2008-04-01
Budget End
2009-03-31
Support Year
15
Fiscal Year
2008
Total Cost
$1,638
Indirect Cost

  Institution

Name
University of Connecticut
Department
Type
Schools of Medicine
DUNS #
022254226
City
Farmington
State
CT
Country
United States
Zip Code

  Publications

Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2018) Examining the effects of alcohol on GABAA receptor mRNA expression and function in neural cultures generated from control and alcohol dependent donor induced pluripotent stem cells. Alcohol 66:45-53
Usmani, Saad; Choquette, Linda; Bona, Robert et al. (2018) Transient bacteremia induced by dental cleaning is not associated with infection of central venous catheters in patients with cancer. Oral Surg Oral Med Oral Pathol Oral Radiol 125:286-294
Moscufo, Nicola; Wakefield, Dorothy B; Meier, Dominik S et al. (2018) Longitudinal microstructural changes of cerebral white matter and their association with mobility performance in older persons. PLoS One 13:e0194051
Santos-Cortez, Regie Lyn P; Hu, Ying; Sun, Fanyue et al. (2017) Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet 25:1155-1161
Jin, Lingling; Liu, Yi; Sun, Fanyue et al. (2017) Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep 7:40935
Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2017) Examining FKBP5 mRNA expression in human iPSC-derived neural cells. Psychiatry Res 247:172-181
Liu, Yaling; Dutra, Eliane H; Reichenberger, Ernst J et al. (2016) Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. J Negat Results Biomed 15:18
Lieberman, Richard; Armeli, Stephen; Scott, Denise M et al. (2016) FKBP5 genotype interacts with early life trauma to predict heavy drinking in college students. Am J Med Genet B Neuropsychiatr Genet 171:879-87
Litt, Mark D; Duffy, Valerie; Oncken, Cheryl (2016) Cigarette smoking and electronic cigarette vaping patterns as a function of e-cigarette flavourings. Tob Control 25:ii67-ii72
Rash, Carla J; Burki, Madison; Montezuma-Rusca, Jairo M et al. (2016) A retrospective and prospective analysis of trading sex for drugs or money in women substance abuse treatment patients. Drug Alcohol Depend 162:182-9

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