Joan E. Pellegrino
Medical Genetics | Pediatrics
750 E Adams St
Syracuse, NY 13210
Syracuse, NY 13210
Last Updated: 09/26/2026
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Found 6 publications
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Journal: American journal of medical genetics. Part A
Published: September 30, 2022
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Journal: International journal of neonatal screening
Published: April 23, 2021
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 25, 2019
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 08, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 27, 2015
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
Journal: Molecular genetics and metabolism
Published: December 09, 2014
Showing 1-6 of 6
Last Updated: 09/26/2026