Affiliation: Alfred I. duPont Hospital for Children
- GalactosemiaPamela 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...
- High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I RegistryPamela 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...
- Newborn screening: current statusPamela 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...
- Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I RegistryPamela 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...
- 3-methylglutaconic aciduria disorders: the clinical spectrum increasesPamela Arn
Division of Genetics, Nemours Children s Clinic, Jacksonville, FL, USA
J Pediatr Hematol Oncol 28:62-3. 2006
- Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findingsJennifer 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...