Abstract

The purpose of this study is to determine the biochemical and molecular genetics of Fabry disease. Efforts are directed to identify the different disease gene mutations and evaluate genotype/phenotype correlations. A major focus of this project is to evaluate enzyme replacement therapy using a KO mouse model to establish enzyme dose and dose schedule, and then to initiate an FDA approved trial of replacement therapy.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000071-34
Application #
6246224
Study Section
Project Start
1997-03-12
Project End
1997-11-30
Budget Start
1996-10-01
Budget End
1997-09-30
Support Year
34
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
Mount Sinai School of Medicine
Department
Type
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10029

  Publications

Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H et al. (2018) Predicting timing of clinical outcomes in patients with chronic kidney disease and severely decreased glomerular filtration rate. Kidney Int 93:1442-1451
Kattan, Meyer; Bacharier, Leonard B; O'Connor, George T et al. (2018) Spirometry and Impulse Oscillometry in Preschool Children: Acceptability and Relationship to Maternal Smoking in Pregnancy. J Allergy Clin Immunol Pract 6:1596-1603.e6
Coplan, Jeremy D; Webler, Ryan; Gopinath, Srinath et al. (2018) Neurobiology of the dorsolateral prefrontal cortex in GAD: Aberrant neurometabolic correlation to hippocampus and relationship to anxiety sensitivity and IQ. J Affect Disord 229:1-13
Altman, Matthew C; Whalen, Elizabeth; Togias, Alkis et al. (2018) Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma. J Allergy Clin Immunol 142:1856-1866
Juraschek, Stephen P; Miller 3rd, Edgar R; Appel, Lawrence J (2018) Orthostatic Hypotension and Symptoms in the AASK Trial. Am J Hypertens 31:665-671
Chen, Teresa K; Appel, Lawrence J; Grams, Morgan E et al. (2017) APOL1 Risk Variants and Cardiovascular Disease: Results From the AASK (African American Study of Kidney Disease and Hypertension). Arterioscler Thromb Vasc Biol 37:1765-1769
Ku, Elaine; Gassman, Jennifer; Appel, Lawrence J et al. (2017) BP Control and Long-Term Risk of ESRD and Mortality. J Am Soc Nephrol 28:671-677
Anderegg, Nanina; Johnson, Leigh F; Zaniewski, Elizabeth et al. (2017) All-cause mortality in HIV-positive adults starting combination antiretroviral therapy: correcting for loss to follow-up. AIDS 31 Suppl 1:S31-S40
Gern, James E; Calatroni, Agustin; Jaffee, Katy F et al. (2017) Patterns of immune development in urban preschoolers with recurrent wheeze and/or atopy. J Allergy Clin Immunol 140:836-844.e7
Abdallah, Chadi G; Jackowski, Andrea; Salas, Ramiro et al. (2017) The Nucleus Accumbens and Ketamine Treatment in Major Depressive Disorder. Neuropsychopharmacology 42:1739-1746

Showing the most recent 10 out of 869 publications