Abstract

It has been hypothesized that inborn errors of ileal bile acid transport result in life-threatening diarrhea in infancy and lowered serum cholesterol with increasing age in childhood, adolescence and adulthood. Cloning of the ileal bile acid transport gene allows opportunities to evaluate subjects with congenital bile acid diarrhea for evidence of mutations. One subject has been evaluated and found to have three mutations resulting in non-expression of the transporter in a test cell system.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR008084-03
Application #
5225653
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
1996
Total Cost
Indirect Cost

  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
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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; 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:
Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628
Zeller, Meg H; Pendery, Emma C; Reiter-Purtill, Jennifer et al. (2017) From adolescence to young adulthood: trajectories of psychosocial health following Roux-en-Y gastric bypass. Surg Obes Relat Dis 13:1196-1203

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