Patricia K Duffner
Affiliation: University at Buffalo
- Array CGH improves detection of mutations in the GALC gene associated with Krabbe diseaseAlice K Tanner
Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, GA, USA
Orphanet J Rare Dis 7:38. 2012..The most common mutation in the Caucasian population is a 30-kb deletion of exons 11 through 17. There are few other reports of intragenic GALC deletions or duplications, due in part to difficulties detecting them...
- Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance techniquePatricia K Duffner
Department of Neurology, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
J Pediatr 161:258-63.e1. 2012....
- Later onset phenotypes of Krabbe disease: results of the world-wide registryPatricia K Duffner
Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, New York 14203, USA
Pediatr Neurol 46:298-306. 2012..Five-year and 10-year survivals for all later onset phenotypes were at least 50%. The later onset Krabbe phenotypes differ from those with early infantile disease, but no specific predictor of phenotype was identified...
- Early infantile Krabbe disease: results of the World-Wide Krabbe RegistryPatricia K Duffner
Hunter James Kelly Research Institute, Department of Neurology, School of Medicine, State University of New York at Buffalo, Buffalo, NY 14203, USA
Pediatr Neurol 45:141-8. 2011..Other biomarkers are needed to predict phenotype in the newborn screening population...
- Risk factors for cognitive decline in children treated for brain tumorsPatricia K Duffner
University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Center of Excellence in Bioinformatics, 701 Ellicott Street, Buffalo, NY 14203, USA
Eur J Paediatr Neurol 14:106-15. 2010..Whether these changes in therapy will ultimately improve the quality of life of the long-term survivors is uncertain. Close follow-up of these children will be required throughout their lives...
- Diagnosis of brain tumors in childrenPatricia K Duffner
University at Buffalo School of Medicine, Hunter James Kelly Research Institute, Buffalo, NY, USA
Expert Rev Neurother 7:875-85. 2007..Diagnosis is then confirmed by neuroradiologic studies, including computed tomography, MRI and magnetic resonance spectroscopy...
- The child neurologist's role in newborn screening programs: a commentaryPatricia K Duffner
Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, NY 14203, USA
Semin Pediatr Neurol 15:117-8. 2008
- The Hunter's Hope Krabbe family databasePatricia K Duffner
Department of Neurology, Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences, Buffalo, New York 14203, USA
Pediatr Neurol 40:13-8. 2009....
- Newborn screening for Krabbe disease: the New York State modelPatricia K Duffner
Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
Pediatr Neurol 40:245-52; discussion 253-5. 2009....
- The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New YorkPatricia K Duffner
Department of Neurology and Hunter James Kelly Research Institute, University at Buffalo School of Medicine, Buffalo, New York 14203, USA
Genet Med 11:450-4. 2009..A broad range of individuals participated, including clinicians, academicians, and authorities from the National Institutes of Health, American College of Medical Genetics, and Department of Health and Human Services...
- Does galactocerebrosidase activity predict Krabbe phenotype?Kabir Jalal
Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, State University of New York at Buffalo, Buffalo, New York, USA
Pediatr Neurol 47:324-9. 2012..Our findings provide empiric evidence that the upper end (0.15 nmol/hour/mg protein) of the high-risk galactocerebrosidase group in the New York State newborn screening program is conservatively appropriate...
- Newborn screening for Krabbe disease in New York State: the first eight years' experienceJoseph J Orsini
Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA
Genet Med 18:239-48. 2016..The only potential treatment is hematopoietic stem cell transplantation. New York State (NYS) implemented newborn screening for KD in 2006...
- Long-term effects of radiation therapy on cognitive and endocrine function in children with leukemia and brain tumorsPatricia K Duffner
Department of Neurology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 219 Bryant Street, Buffalo, NY 14222, USA
Neurologist 10:293-310. 2004..These complications have been studied most extensively in children with brain tumors and leukemia...
- 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 repPatricia K Duffner
Department of Neurology, University at Buffalo School of Medicine Department of Pediatrics, Roswell Park Cancer Institute, Buffalo, NY Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children s Hospital, Miami, FL Statistics and Data Center, Children s Oncology Group, Monrovia, CA Department of Radiological Sciences, St Jude Children s Research Hospital, Memphis, TN Department of Pediatrics, Georgia Health Science Center, Augusta, GA Department of Pediatrics, West Virginia University Health Science Center, Charleston, WV
J Pediatr Hematol Oncol 36:8-15. 2014..24%, 4/17 measures). This supports ongoing concerns about intensive MTX exposure as a major contributor to CNS late effects. ..
- Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseasesAmy L Barczykowski
Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, New York, USA
Am J Med Genet A 158:2835-42. 2012..It is presumed that most, if not all, will develop later onset forms of the disease, but this is by no means certain...
- The long term effects of chemotherapy on the central nervous systemPatricia K Duffner
Department of Neurology, Women and Children s Hospital of Buffalo, University of Buffalo School of Medicine, 219 Bryant St, Buffalo, NY 14222, USA
J Biol 5:21. 2006..By identifying the cell populations at risk, these results may help explain the neurological problems previously seen after chemotherapy...
- Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotypeAhmed N Abdelhalim
Department of Neuroradiology, Roswell Park Cancer Institute, Buffalo, New York
Pediatr Neurol 50:127-34. 2014..Initial magnetic resonance imaging studies of individuals with Krabbe disease were analyzed to determine whether the pattern of abnormalities corresponded to the phenotype...
- Do serum sodium levels predict febrile seizure recurrence within 24 hours?Jill Ellyn Thoman
University of Buffalo Medical School, Buffalo, New York, USA
Pediatr Neurol 31:342-4. 2004..These findings reaffirm the recommendation of the American Academy of Pediatrics Practice Parameter to not routinely obtain electrolytes...
- Detection of coronavirus in the central nervous system of a child with acute disseminated encephalomyelitisE Ann Yeh
Department of Neurology, State University of New York at Buffalo, School of Medicine and Biomedical Sciences, Buffalo, New York, USA
Pediatrics 113:e73-6. 2004..This case report provides additional support for the hypothesis that coronavirus may be an important etiologic factor in the pathogenesis of demyelinating disease in humans...
- Hyperkinetic seizures in childrenArie Weinstock
Department of Neurology, Children s Hospital of Buffalo, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA
J Child Neurol 18:517-24. 2003..Video-EEG is the most effective way of diagnosing this type of seizure...
- Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor genePaul Graham Fisher
Department of Neurology, Stanford University School of Medicine, Palo Alto, CA 94305 5235, USA
Ann Neurol 51:257-60. 2002..The tumorigenesis of hemangioblastoma in younger patients may differ from that in adults, and may involve a molecular process unrelated to the von Hippel-Lindau tumor suppressor pathway...
- Supratentorial primitive neuroectodermal tumors of infancy: clinical and radiologic findingsAlper I Dai
West Virginia University Children s Hospital, Department of Pediatrics, Morgantown, West Virginia, USA
Pediatr Neurol 29:430-4. 2003....