Mass Spectrometry Screening for Inborn Errors of Metabolism Lila Worden David A. Sweetser Diagnosis of Inborn Errors of Metabolism From Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated…
Noninvasive Prenatal Testing for Trisomy 21 Lila Worden David A. Sweetser Non-Invasive Prenatal Assessment of Trisomy 21 by Multiplexed Maternal Plasma DNA Sequencing: Large Scale Validity Study Chiu RW, Akolekar…
Use of Pucai Score in Ulcerative Colitis Kathryn E. Wynne Christopher J. Moran Severe Pediatric Ulcerative Colitis: A Prospective Multicenter Study of Outcomes and Predictors of Response Turner D, Mack…
Whole-Exome Sequencing Lila Worden David A. Sweetser Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yang Y, Muzny DM, Reid JG, et al. N Engl J Med. 2013;369(16):1502–1511 Background…
Polyethylene Glycol Treatment for Constipation Kathryn E. Wynne Christopher J. Moran Efficacy and Optimal Dose of Daily Polyethylene Glycol 3350 for Treatment of Constipation and Encopresis in Children Pashankar DS,…
Prevalence of Celiac Disease Kathryn E. Wynne Christopher J. Moran Prevalence of Celiac Disease in At-Risk and Not-At-Risk Groups in the US: A Large Multicenter Study Fasano A, Berti I,…
Infliximab Therapy for Crohn’s Disease Kathryn E. Wynne Christopher J. Moran Induction and Maintenance Infliximab Therapy for the Treatment of Moderate-to-Severe Crohn’s Disease in Children (The Reach Trial) Hyams J,…
Introduction of Gluten and Celiac Disease Risk Kathryn E. Wynne Christopher J. Moran Introduction of Gluten, HLA Status, and the Risk of Celiac Disease in Children Lionetti E, Castellaneta S,…
Prevention of Intellectual Impairment with Neonatal Hypothyroidism Screening Mary Perry Alexander Takara Stanley Effects of Neonatal Screening for Hypothyroidism: Prevention of Mental Retardation by Treatment Before Clinical Manifestations New England…
Intensive Insulin Treatment for Type 1 Diabetes Mary Perry Alexander Takara Stanley The Effect of Intensive Treatment of Diabetes on the Development and Progression of Long-Term Complications in Insulin-Dependent Diabetes…
