Abstract

Infants with inborn errors of bile acid metabolism and peroxisomal disorders, including Zellweger's syndrome and infantile adrenoleukodystrophy, commonly have liver disease because of impaired peroxisomal metabolism and accumulation of bile acid intermediates. Using techniques of mass spectroscopy, electron microscopy and MRI- spectroscopy, this study is evaluating the role of bile acid therapy (cholic acid) as therapy for the liver disease with inborn errors of bile acid metabolism/peroxisomal disorders of infancy. During this study period, 3 patients with peroxisomal disease and 1 with previously identified inborn errors of bile acid metabolism, 3-beta hydroxysteroid dehydrogenase/isomerase were evaluated. Subjects are still being recruited for these studies.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR008084-05
Application #
6282837
Study Section
Project Start
1997-12-01
Project End
1998-11-30
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
5
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229

  Publications

Natarajan, Girija; Shankaran, Seetha; Laptook, Abbot R et al. (2018) Association between sedation-analgesia and neurodevelopment outcomes in neonatal hypoxic-ischemic encephalopathy. J Perinatol 38:1060-1067
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
DiFrancesco, Mark W; Shamsuzzaman, Abu; McConnell, Keith B et al. (2018) Age-related changes in baroreflex sensitivity and cardiac autonomic tone in children mirrored by regional brain gray matter volume trajectories. Pediatr Res 83:498-505
Autmizguine, Julie; Tan, Sylvia; Cohen-Wolkowiez, Michael et al. (2018) Antifungal Susceptibility and Clinical Outcome in Neonatal Candidiasis. Pediatr Infect Dis J 37:923-929
Jilling, Tamas; Ambalavanan, Namasivayam; Cotten, C Michael et al. (2018) Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8. Pediatr Res 83:943-953
Lin, Shan; Luo, Roger T; Shrestha, Mahesh et al. (2017) The full transforming capacity of MLL-Af4 is interlinked with lymphoid lineage commitment. Blood 130:903-907
Puopolo, Karen M; Mukhopadhyay, Sagori; Hansen, Nellie I et al. (2017) Identification of Extremely Premature Infants at Low Risk for Early-Onset Sepsis. Pediatrics 140:
Lin, Shan; Ptasinska, Anetta; Chen, Xiaoting et al. (2017) A FOXO1-induced oncogenic network defines the AML1-ETO preleukemic program. Blood 130:1213-1222
James, Jennifer; Munson, David; DeMauro, Sara B et al. (2017) Outcomes of Preterm Infants following Discussions about Withdrawal or Withholding of Life Support. J Pediatr 190:118-123.e4
Peralta-Carcelen, Myriam; Carlo, Waldemar A; Pappas, Athina et al. (2017) Behavioral Problems and Socioemotional Competence at 18 to 22 Months of Extremely Premature Children. Pediatrics 139:

Showing the most recent 10 out of 502 publications