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Patricia K. Duffner

University at Buffalo

94

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Clinical Review : Sudden Bilateral Blindness in Children

2016 Clinical Pediatrics
- Patricia K. Duffner
- Michael E. Cohen
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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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Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients With Krabbe Disease Correspond to Phenotype

2014 Pediatric Neurology
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Inadequate Folinic Acid Rescue After Methotrexate Causing Neurocognitive and Neuroradiologic Central Nervous System Late Effects in Children With Acute Lymphatic Leukemia.

2014 Journal of Pediatric Hematology Oncology
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Neurocognitive and neuroradiologic central nervous system late effects in children treated on pediatric oncology group (POG) P9605 (Standard Risk) and P9201 (Lesser Risk) acute lymphoblastic leukemia protocols (ACCL0131): A methotrexate consequence? A report from the children's oncology group

2014 Journal of Pediatric Hematology Oncology
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Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry

2012 Pediatric Neurology
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Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases

2012 American Journal of Medical Genetics Part A
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Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: A pilot study of a phone-based interview surveillance technique

2012 The Journal of Pediatrics
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Does Galactocerebrosidase Activity Predict Krabbe Phenotype

2012 Pediatric Neurology
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The effect of galactocerebrosidase (GALC) activity on age of symptom onset in Krabbe disease (KD)

2011 Molecular Genetics and Metabolism
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