关注
Amy Barczykowski
Amy Barczykowski
Informaticist, Population Health Observatory, University at Buffalo
在 buffalo.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry
PK Duffner, A Barczykowski, DM Kay, K Jalal, L Yan, A Abdelhalim, S Gill, ...
Pediatric neurology 46 (5), 298-306, 2012
1062012
Early infantile Krabbe disease: Results of the world-wide Krabbe registry
PK Duffner, A Barczykowski, K Jalal, L Yan, DM Kay, RL Carter
Pediatric neurology 45 (3), 141-148, 2011
972011
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype
AN Abdelhalim, RA Alberico, AL Barczykowski, PK Duffner
Pediatric neurology 50 (2), 127-134, 2014
742014
Death rates in the US due to Krabbe disease and related leukodystrophy and lysosomal storage diseases
AL Barczykowski, AH Foss, PK Duffner, L Yan, RL Carter
American Journal of Medical Genetics Part A, 2012
512012
Does Galactocerebrosidase Activity Predict Krabbe Phenotype?
K Jalal, R Carter, L Yan, A Barczykowski, PK Duffner
Pediatric Neurology 47 (5), 324-329, 2012
31*2012
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
TJ Langan, JJ Orsini, K Jalal, AL Barczykowski, ML Escolar, MD Poe, ...
Genetics in Medicine 21 (7), 1644-1651, 2019
202019
Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique
PK Duffner, C Granger, N Lyon, P Niewczyk, A Barczykowski, S Bauer, ...
The Journal of pediatrics, 2012
182012
Evidence for improved survival in postsymptomatic stem cell‐transplanted patients with K rabbe's disease
TJ Langan, AL Barcykowski, J Dare, EC Pannullo, L Muscarella, ...
Journal of neuroscience research 94 (11), 1189-1194, 2016
152016
Can psychosine and galactocerebrosidase activity predict early‐infantile K rabbe's disease presymptomatically?
RL Carter, L Wrabetz, K Jalal, JJ Orsini, AL Barczykowski, D Matern, ...
Journal of neuroscience research 94 (11), 1084-1093, 2016
152016
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on …
TJ Langan, K Jalal, AL Barczykowski, RL Carter, M Stapleton, K Orii, ...
JIMD reports 52 (1), 35-42, 2020
122020
A roadmap for potential improvement of newborn screening for inherited metabolic diseases following recent developments and successful applications of bivariate Normal limits …
K Jalal, RL Carter, A Barczykowski, S Tomatsu, TJ Langan
International Journal of Neonatal Screening 8 (4), 61, 2022
82022
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
TJ Langan, A Barczykowski, K Jalal, L Sherwood, H Allewelt, J Kurtzberg, ...
JIMD reports 47 (1), 47-54, 2019
52019
Death rates in the US due to Leukodystrophies with pediatric forms
AL Barczykowski, TJ Langan, A Vanderver, K Jalal, RL Carter
American Journal of Medical Genetics Part A 185 (8), 2361-2373, 2021
22021
A comparison of three proposed methods of newborn screening for early infantile Krabbe disease
R Carter, K Jalal, J Orsini, L Wrabetz, A Barcyzkowski, M Escolar, C Biski, ...
Mol. Genet. Metab 123, S28-S29, 2018
12018
Laboratory reliability and validity for measuring psychosine concentration and GALC enzyme activity for use in newborn screening for Krabbe disease
KK Jalal, TJ Langan, J Orsini, M Gelb, D Matern, AL Barczykowski, ...
Molecular Genetics and Metabolism 123 (2), S69-S70, 2018
12018
Treatment Resistant Alcohol Use Disorder
DA Patterson Silver Wolf, CN Dulmus, GE Wilding, J Yu, AL Barczykowski, ...
Alcoholism Treatment Quarterly 40 (2), 205-216, 2022
2022
Profiles and Predictors of Treatment-Resistant Opioid Use Disorder (TROUD): A Secondary Data Analysis of Treatment Episode Data Set’s 2017 Admissions
DA Patterson Silver Wolf, C Dulmus, G Wilding, A Barczykowski, J Yu, ...
Alcoholism Treatment Quarterly 39 (4), 517-532, 2021
2021
Profiles and Predictors of Treatment-Resistant Opioid Use Disorder (TROUD): A Secondary Data Analysis of Treatment Episode Data Set’s 2017 Admissions
DAPS Wolf, C Dulmus, G Wilding, A Barczykowski, J Yu, S Beeler-Stinn, ...
2021
Survey of quality of life, phenotypic expression and response to treatment in patients with Krabbe leukodystrophy
TJ Langan, A Barczykowski, K Jalal, L Sherwood, H Allewelt, J Kurtzberg, ...
Molecular Genetics and Metabolism 123 (2), S82-S83, 2018
2018
Death rates in the United States due to leukodystrophies in the global leukodystrophy initiative registry and related lysosomal disorders
AL Barczykowski, TJ Langan, A Vanderver, K Jalal, RL Carter
Molecular Genetics and Metabolism 123 (2), S22, 2018
2018
系统目前无法执行此操作,请稍后再试。
文章 1–20