Affiliation: University of Minnesota
- High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in MinnesotaK Sarafoglou
Department of Pediatrics, University of Minnesota, Minneapolis, MMC 8404 13 124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA
J Inherit Metab Dis 32:S169-73. 2009..New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism...
- Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasiaKyriakie Sarafoglou
Division of Pediatric Endocrinology, Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota Amplatz Children s Hospital, East Building, Room MB671, 2450 Riverside Ave, Minneapolis, MN 55454
Pediatrics 130:e1261-8. 2012..Minnesota was the first state to initiate, and only 1 of 4 states currently performing, second-tier steroid profiling for CAH. False-negative rates (FNRs) for CAH are not well known...
- Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screeningK Sarafoglou
Department of Pediatrics, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN 55455, USA
Clin Genet 82:64-70. 2012..In the era of NBS, molecular testing is a valuable supplemental tool identifying patients who may benefit from reassessment of their salt-retaining ability...
- Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementationK Sarafoglou
Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA
Clin Genet 78:191-4. 2010....
- Lesch-Nyhan variant syndrome: variable presentation in 3 affected family membersKyriakie Sarafoglou
Department of Pediatrics, University of Minnesota, MMC 8404, 13 124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA
Arch Neurol 67:761-4. 2010..With rare exception, each mutation produces a stereotypical pattern of clinical disease; onset of neurologic symptoms occurs during infancy and is thought to be nonprogressive...
- Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasiaKyriakie Sarafoglou
Department of Pediatrics, School of Public Health, University of Minnesota, Minneapolis, Minn 55455, USA
Horm Res Paediatr 75:19-25. 2011..Steroid profiling in dried blood spots (DBS) may allow for more frequent and sensitive monitoring...
- Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screeningKyriakie Sarafoglou
Department of Pediatrics, University of Minnesota Medical School, MMC 8404 13 124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA
Pediatrics 128:e246-50. 2011....
- Aromatase Inhibitor in Males with Adrenal HyperplasiaKyriakie Sarafoglou; Fiscal Year: 2006..Aromatase inhibitors have selective action, are well tolerated by patients, and do not interfere with the production of steroid hormones by other related cytochrome P450-dependent enzymes making it ideal for use in CAH patients. ..