Newborn Screening for Pompe Disease: Pennsylvania Experience.

Autor: Ficicioglu C; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Barch J; Department of Pediatrics, Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Cuddapah SR; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., DiBoscio BS; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., DiPerna JC; PerkinElmer, Mass Spectroscopy Unit, Pittsburgh, PA 15275, USA., Gordon PL; Division of Human Genetics, Penn State Heath Children's Hospital, Penn State University College of Medicine, Hershey, PA 17033, USA., Henderson N; Department of Pediatrics, Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Menello C; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Luongo N; Division of Human Genetics/Metabolism, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Ortiz D; Department of Pediatrics, Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Xiao R; Department of Pediatrics, Division of Biostatistics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2020 Nov 13; Vol. 6 (4). Date of Electronic Publication: 2020 Nov 13.