Genetics of Family with Hypercalciuric Hypophosphatemic Rickets Syndrome

Abstract

The proposal is to investigate metabolism of calcium, phosphorus, vitamin D, and related substances in members of a family who probably have a variant of the hypercalcuria hypophosphatemic rickets syndrome. This is in an effort to clarify the nature of the metabolic defect.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Center for Research Resources (NCRR)
• Type: General Clinical Research Centers Program (M01)
• Project #: 5M01RR005280-08
• Application #: 2355230
• Budget Start: 1995-10-01
• Budget End: 1996-09-30
• Support Year: 8
• Fiscal Year: 1996

Institution

• Name: University of Miami School of Medicine
• City: Miami
• State: FL
• Country: United States
• Zip Code: 33146

Publications

Puhan, Milo A; Ahuja, Alka; Van Natta, Mark L et al. (2011) Interviewer versus self-administered health-related quality of life questionnaires - does it matter? Health Qual Life Outcomes 9:30

Puhan, Milo A; Van Natta, Mark L; Palella, Frank J et al. (2010) Excess mortality in patients with AIDS in the era of highly active antiretroviral therapy: temporal changes and risk factors. Clin Infect Dis 51:947-56

Rimrodt, Sheryl L; Peterson, Daniel J; Denckla, Martha B et al. (2010) White matter microstructural differences linked to left perisylvian language network in children with dyslexia. Cortex 46:739-49

Johnson, Andrew D; Yanek, Lisa R; Chen, Ming-Huei et al. (2010) Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nat Genet 42:608-13

Wilkin, Timothy J; Su, Zhaohui; Krambrink, Amy et al. (2010) Three-year safety and efficacy of vicriviroc, a CCR5 antagonist, in HIV-1-infected treatment-experienced patients. J Acquir Immune Defic Syndr 54:470-6

Gluckman, T J; Segal, J B; Schulman, S P et al. (2009) Effect of anti-platelet factor-4/heparin antibody induction on early saphenous vein graft occlusion after coronary artery bypass surgery. J Thromb Haemost 7:1457-64

Cole, W R; Mostofsky, S H; Larson, J C Gidley et al. (2008) Age-related changes in motor subtle signs among girls and boys with ADHD. Neurology 71:1514-20

Froud, Tatiana; Faradji, Raquel N; Pileggi, Antonello et al. (2008) The use of exenatide in islet transplant recipients with chronic allograft dysfunction: safety, efficacy, and metabolic effects. Transplantation 86:36-45

Jabs, Douglas A; Van Natta, Mark L; Holbrook, Janet T et al. (2007) Longitudinal study of the ocular complications of AIDS: 1. Ocular diagnoses at enrollment. Ophthalmology 114:780-6

Jabs, Douglas A; Van Natta, Mark L; Holbrook, Janet T et al. (2007) Longitudinal study of the ocular complications of AIDS: 2. Ocular examination results at enrollment. Ophthalmology 114:787-93