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Pediatric Research|April 9, 2005
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementPrem S Shekhawat, Dietrich Matern, Arnold W StraussMental Retardation and Developmental Disabilities Research Reviews|December 22, 2006
Making the case for objective performance metrics in newborn screening by tandem mass spectrometryPiero Rinaldo, Saba Zafari, Silvia Tortorelli, et al.Placenta|September 15, 2018
Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiencyPrem S Shekhawat, Srinivas Sonne, Dietrich Matern, et al.Journal of Immunological Methods|February 14, 2021
Parameters of immunoglobulin extraction from dried blood spot cards and immunoassays for detection of antibody response to pathogens including the novel SARS-CoV-2Ianko Iankov, Kimberly Viker, Coleman Turgeon, et al.Current Molecular Medicine|April 13, 2002
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complexJanice Yang Chou, Dietrich Matern, Brian C Mansfield, et al.Nestle Nutrition Workshop Series. Paediatric Programme|July 16, 2008
Newborn screening of metabolic disorders: recent progress and future developmentsPiero Rinaldo, James S Lim, Silvia Tortorelli, et al.Genetics in Medicine Open|February 13, 2025
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performanceKristina Cusmano-Ozog, Dietrich Matern, Thomas Long, et al.Plos One|November 1, 2012
Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory responseSrinivas Sonne, Prem S Shekhawat, Dietrich Matern, et al.Human Gene Therapy|July 22, 2014
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemiaAdam J Guenzel, Matthew L Hillestad, Dietrich Matern, et al.European Journal of Pediatrics|October 10, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlationDietrich Matern, Hans Hermann Seydewitz, Deeksha Bali, et al.Pageof 17