Pamela Arn

Summary

Affiliation: Alfred I. duPont Hospital for Children
Country: USA

Publications

  1. ncbi request reprint Galactosemia
    Pamela H Arn
    Division of Genetics, Nemours Children s Clinic, 807 Children s Way, Jacksonville, FL 32207, USA
    Curr Treat Options Neurol 5:343-345. 2003
  2. doi request reprint High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry
    Pamela Arn
    The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr Surg 47:477-84. 2012
  3. ncbi request reprint Newborn screening: current status
    Pamela H Arn
    Nemours Children s Clinic, Jacksonville, Florida, USA
    Health Aff (Millwood) 26:559-66. 2007
  4. doi request reprint Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry
    Pamela Arn
    Department of Pediatrics, The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr 154:859-64.e3. 2009
  5. ncbi request reprint 3-methylglutaconic aciduria disorders: the clinical spectrum increases
    Pamela Arn
    Division of Genetics, Nemours Children s Clinic, Jacksonville, FL, USA
    J Pediatr Hematol Oncol 28:62-3. 2006
  6. ncbi request reprint Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings
    Jennifer A Steele
    Department of Dermatology, Mayo Clinic, Jacksonville, Florida 32207, USA
    Pediatr Dermatol 22:415-9. 2005

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Galactosemia
    Pamela H Arn
    Division of Genetics, Nemours Children s Clinic, 807 Children s Way, Jacksonville, FL 32207, USA
    Curr Treat Options Neurol 5:343-345. 2003
    ..Familiarity with the long-term neurologic consequences of galactosemia can help the neurologist assist the family with prognostic information and to avoid unnecessary tests when complications occur...
  2. doi request reprint High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry
    Pamela Arn
    The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr Surg 47:477-84. 2012
    ..Surgery often precedes diagnosis; thus, surgeons and anesthesiologists may be unaware of potential risks...
  3. ncbi request reprint Newborn screening: current status
    Pamela H Arn
    Nemours Children s Clinic, Jacksonville, Florida, USA
    Health Aff (Millwood) 26:559-66. 2007
    ..Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight...
  4. doi request reprint Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry
    Pamela Arn
    Department of Pediatrics, The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr 154:859-64.e3. 2009
    ..To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database...
  5. ncbi request reprint 3-methylglutaconic aciduria disorders: the clinical spectrum increases
    Pamela Arn
    Division of Genetics, Nemours Children s Clinic, Jacksonville, FL, USA
    J Pediatr Hematol Oncol 28:62-3. 2006
  6. ncbi request reprint Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings
    Jennifer A Steele
    Department of Dermatology, Mayo Clinic, Jacksonville, Florida 32207, USA
    Pediatr Dermatol 22:415-9. 2005
    ..The new and varied phenotypic features noted in these patients emphasize the spectrum of disease caused by mutations in the p63 gene and raise the possibility of a role for it in maintaining immunocompetence...