Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Method to Extend Research in Time (MERIT) Award (R37)
Project #
5R37DK034045-13
Application #
2139222
Study Section
Medical Biochemistry Study Section (MEDB)
Project Start
1984-05-01
Project End
1997-04-30
Budget Start
1996-05-15
Budget End
1997-04-30
Support Year
13
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Mount Sinai School of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
City
New York
State
NY
Country
United States
Zip Code
10029
Cantatore-Francis, Julie L; Cohen-Pfeffer, Jessica; Balwani, Manisha et al. (2010) Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol 146:529-33
Khanna, Richie; Soska, Rebecca; Lun, Yi et al. (2010) The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 18:23-33
Schiffmann, Raphael; Warnock, David G; Banikazemi, Maryam et al. (2009) Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24:2102-11
Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung et al. (2009) Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 30:1397-405
Banikazemi, Maryam; Bultas, Jan; Waldek, Stephen et al. (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77-86
Grace, Marie E; Balwani, Manisha; Nazarenko, Irina et al. (2007) Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat 28:866-73
Laradi, S; Tukel, T; Khediri, S et al. (2006) Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab 87:213-8
Nance, Christopher S; Klein, Christopher J; Banikazemi, Maryam et al. (2006) Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol 63:453-7
Desnick, Robert J; Banikazemi, Maryam (2006) Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. Nephrol Ther 2 Suppl 2:S172-85
Spada, Marco; Pagliardini, Severo; Yasuda, Makiko et al. (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31-40

Showing the most recent 10 out of 73 publications