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Joan E. Pellegrino

State University of New York Upstate Medical University

10

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435

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Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.

2021 International Journal of Neonatal Screening
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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

2020 Genetics in Medicine
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Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease

2018 Molecular Genetics and Metabolism
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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

2016 Genetics in Medicine
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Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

2015 Molecular Genetics and Metabolism
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Citations (64)
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

2014
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Myoclonus-dystonia syndrome associated with Russell Silver syndrome.

2013 Movement Disorders
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Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

2010 Molecular Genetics and Metabolism
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Citations (43)
Newborn screening for Krabbe disease: the New York State model.

2009 Pediatric Neurology
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Citations (165)