Abstract

Quantitation of biogenic amine metabolites in cerebrospinal fluid has enabled this investigator to evaluate and monitor treatment of various metabolic and degenerative disorders of the CNS. Patients studied include those with familial dystonic-Parkinsonism, infantile spasms, torsion dystonia, Hartnup disease, PKU variants and various dysautonomic conditions. Current studies include analysis of specific genetic mutations in children with aromatic amino acid decarboxylase deficiency and a detailed neuropsychiatric evaluation and molecular analysis of a large Texas family with GTP cyclohydrolast deficiency due to 37 bp deletion.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR002558-14
Application #
6121078
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
14
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
University of Texas Health Science Center Houston
Department
Type
DUNS #
City
Houston
State
TX
Country
United States
Zip Code
77225

  Publications

Chappell, Cynthia L; Darkoh, Charles; Shimmin, Lawrence et al. (2016) Fecal Indole as a Biomarker of Susceptibility to Cryptosporidium Infection. Infect Immun 84:2299-306
Liao, George P; Harting, Matthew T; Hetz, Robert A et al. (2015) Autologous bone marrow mononuclear cells reduce therapeutic intensity for severe traumatic brain injury in children. Pediatr Crit Care Med 16:245-55
Arroyo-Ávila, Mariangelí; Santiago-Casas, Yesenia; McGwin Jr, Gerald et al. (2015) Clinical associations of anti-Smith antibodies in PROFILE: a multi-ethnic lupus cohort. Clin Rheumatol 34:1217-23
Chappell, Cynthia L; Okhuysen, Pablo C; Langer-Curry, Rebecca C et al. (2015) Cryptosporidium muris: infectivity and illness in healthy adult volunteers. Am J Trop Med Hyg 92:50-5
Reveille, John D (2014) An update on the contribution of the MHC to AS susceptibility. Clin Rheumatol 33:749-57
Bethi, Siddharth; Dasgupta, Abhijit; Weisman, Michael H et al. (2013) Functional limitations due to axial and peripheral joint impairments in patients with ankylosing spondylitis: are focused measures more informative? Arthritis Care Res (Hoboken) 65:607-14
Ward, Michael M; Learch, Thomas J; Gensler, Lianne S et al. (2013) Regional radiographic damage and functional limitations in patients with ankylosing spondylitis: differences in early and late disease. Arthritis Care Res (Hoboken) 65:257-65
Benjamin-Garner, Ruby; Stotts, Angela (2013) Impact of smoking exposure change on infant birth weight among a cohort of women in a prenatal smoking cessation study. Nicotine Tob Res 15:685-92
Ornstein, Tisha J; Max, Jeffrey E; Schachar, Russell et al. (2013) Response inhibition in children with and without ADHD after traumatic brain injury. J Neuropsychol 7:1-11
Murthy, Vijaya; Willis, Rohan; Romay-Penabad, Zurina et al. (2013) Value of isolated IgA anti-?2 -glycoprotein I positivity in the diagnosis of the antiphospholipid syndrome. Arthritis Rheum 65:3186-93

Showing the most recent 10 out of 396 publications