Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Center Core Grants (P30)
Project #
3P30HD028822-05S1
Application #
2329185
Study Section
Special Emphasis Panel (SRC (04))
Project Start
1991-09-30
Project End
1997-11-30
Budget Start
1995-09-01
Budget End
1997-11-30
Support Year
5
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Mount Sinai School of Medicine
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
114400633
City
New York
State
NY
Country
United States
Zip Code
10029
Bishop, David F; Schneider-Yin, Xiaoye; Clavero, Sonia et al. (2010) Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood 115:1062-9
Wasserstein, M P; Snyderman, S E; Sansaricq, C et al. (2006) Cerebral glucose metabolism in adults with early treated classic phenylketonuria. Mol Genet Metab 87:272-7
Magage, Sudheera; Linhart, Ales; Bultas, Jan et al. (2005) Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography 22:333-9
Thurberg, Beth L; Randolph Byers, H; Granter, Scott R et al. (2004) Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies. J Invest Dermatol 122:900-8
Meehan, Shane M; Junsanto, Tipsuda; Rydel, James J et al. (2004) Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis 43:164-71
Glass, Ronald B J; Astrin, Kenneth H; Norton, Karen I et al. (2004) Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr 28:158-68
Durham, John H C; Desnick, Robert J; Imbriano, Louis et al. (2004) Prolonged postpartum proteinuria after early preeclampsia. Am J Kidney Dis 43:186-91
Reeves, Helen L; Narla, Goutham; Ogunbiyi, Olagunju et al. (2004) Kruppel-like factor 6 (KLF6) is a tumor-suppressor gene frequently inactivated in colorectal cancer. Gastroenterology 126:1090-103
Yasuda, Makiko; Shabbeer, Junaid; Osawa, Makiko et al. (2003) Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. Am J Hum Genet 73:162-73
Froissart, Roseline; Guffon, Nathalie; Vanier, Marie T et al. (2003) Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 80:307-14

Showing the most recent 10 out of 126 publications