Off-label use of agalsidase beta and immune tolerance induction: The challenges of treatment initiation in young Fabry disease patients

Autor: Pressley, Shaney, Menello, Caitlin, Adang, Laura A., Ahrens-Nicklas, Rebecca

Publikováno v: In Molecular Genetics and Metabolism February 2024 141(2)

A review of provider experiences with newborn screening for Krabbe disease in Pennsylvania

Autor: Williams, Kaylee, Menello, Caitlin, Henderson, Nadene D., Engelhardt, Nicole, Lahr, Ashley, Schmidt, Sarah, Ficicioglu, Can, Ortiz, Damara

Publikováno v: In Molecular Genetics and Metabolism February 2023 138(2)

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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.