Director of Education

Medical Genetics

Pamela works in the field of Medical Genetics. She studied medicine at University of Virginia School of Medicine. She received 1 awards: "Top Doctors: Florida". Pamela H. Arn, MD is also published. She has 28 publications published. The lastest publication: "Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.'

Publications

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• Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
• Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I.
• The natural history of MPS I: global perspectives from the MPS I Registry.
• High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry.
• Newborn screening: current status.
• Galactosemia.
• Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutati...
• Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
• Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
• Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydrata...
• Mild mandibulofacial dysostosis in a child with a deletion of 3p.
• SRVX, a sex reversing locus in Xp21.2-->p22.11.
• Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature.
• Surgical management of children and young adults with Marfan syndrome and pectus excavatum.
• Outcome of pectus excavatum in patients with Marfan syndrome and in the general population.
• The macromolecular organization of human centromeric regions.
• Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.
• Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations.
• Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes.
• The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.
• 3-methylglutaconic aciduria disorders: the clinical spectrum increases.
• Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.
• Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
• Glycogen storage disease type III diagnosis and management guidelines.
• Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
• Education format and resource preferences among registrants of a pediatric-focused CME website.
• Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry.

Schools

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• University Of Virginia School Of Medicine

• Chldns Hospital Of Pittsburgh

• Johns Hopkins Hospital

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Top Doctors: Florida

Education

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• Johns Hopkins University
• University of Pittsburgh Medical Center
• University of Virginia School of Medicine

Hospital

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• Baptist Medical Center Jacksonville

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