Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Autor: Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.

Publikováno v: In Genetics in Medicine November 2014 16(11):e1-e29

Index of Suspicion in the Nursery: 3 Respiratory Distress and Tachycardia in a Preterm Neonate.

Autor: McCrary, Andrew W., Page, Laura C., Tatum, Gregory H., Greenberg, Rachel G., Burns Wechsler, Stephanie, Gumus Balikcioglu, Pinar

Publikováno v: NeoReviews; Jun2017, Vol. 18 Issue 6, pe392-e394, 5p

Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

Autor: Mascho K; Division of Pediatric Critical Care, Rainbow Babies and Children's Hospital, Cleveland, OH, United States., Yatsenko SA; University of Pittsburgh, Pittsburgh, PA, United States., Lo CW; University of Pittsburgh, Pittsburgh, PA, United States., Xu X; University of Pittsburgh, Pittsburgh, PA, United States., Johnson J; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Helvaty LR; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, United States., Burns Wechsler S; Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA, United States., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Garg V; Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, OH, United States., Hodge JC; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, United States., McBride KL; Center for Cardiovascular Research and Heart Center, Nationwide Children's Hospital, Columbus, OH, United States.; Department of Medical Genetics, University of Calgary, Calgary, AB, Canada., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, United States., Lin JI; University of Pittsburgh, Pittsburgh, PA, United States.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.; Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, United States.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Oct 18; Vol. 15, pp. 1451746. Date of Electronic Publication: 2024 Oct 18 (Print Publication: 2024).