Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Amy Barczykowski"'
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 61 (2022)
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Hea
Externí odkaz:
https://doaj.org/article/2adc59a4846f422598fdddbfb03179dd
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
Autor:
Thomas J. Langan, Amy Barczykowski, Kabir Jalal, Laura Sherwood, Heather Allewelt, Joanne Kurtzberg, Randy L. Carter
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 47-54 (2019)
Abstract Objectives To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. Methods The survey, the Leukodystrophy Quality of Life Assessment (LQL
Externí odkaz:
https://doaj.org/article/62e552a7e89a4b10948f4b6e02f8d8ca
Autor:
David A. Patterson Silver Wolf, Catherine N. Dulmus, Greg Wilding, Sara Beeler-Stinn, Nicole M. Rodriguez, Jihnhee Yu, Amy Barczykowski, Steven Harvey, Autumn Asher BlackDeer
Publikováno v:
Alcoholism Treatment Quarterly. 39:517-532
Though behavioral interventions and medications have shown efficacy for individuals suffering from an opioid use disorder (OUD), there is a substantial sub-population that does not respond to curre...
Autor:
Kenji E. Orii, Kabir Jalal, Toshiyuki Fukao, Seiji Yamaguchi, Molly Stapleton, Hironori Kobayashi, Amy Barczykowski, Randy L. Carter, Shunji Tomatsu, Thomas J. Langan
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 35-42 (2020)
JIMD Reports
JIMD Reports
Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy
Autor:
Randy L. Carter, Thomas J. Langan, Kabir Jalal, Laura Sherwood, Joanne Kurtzberg, Amy Barczykowski, Heather B. Allewelt
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 47-54 (2019)
JIMD Reports
JIMD Reports
Objectives To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. Methods The survey, the Leukodystrophy Quality of Life Assessment (LQLA) and th
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
To use national mortality and state death certificate records to estimate disease specific mortality rates among pediatric and adult populations for 23 leukodystrophies (LDs) with pediatric forms. Additionally, to calculate yearly prevalence and case
Autor:
Kabir Jalal, Thomas J. Langan, Amy Barczykowski, Randy L. Carter, Dietrich Matern, Lawrence Wrabetz, Joseph J. Orsini
Publikováno v:
Journal of Neuroscience Research. 94:1084-1093
Krabbe's disease (KD) is a fatal neurodegenerative disorder, with the early-infantile form (EIKD) defined by onset of symptoms before age 6 months. Early and highly accurate identification of EIKD is required to maximize benefits of hematopoietic ste
Autor:
Thomas J. Langan, Joseph J. Orsini, Maria L. Escolar, Michele D. Poe, Chad K. Biski, Randy L. Carter, Amy Barczykowski, Kabir Jalal
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(7)
Purpose Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool
Autor:
Randy L. Carter, Amy Barczykowski, Thomas J. Langan, Heather B. Allewelt, Kabir Jalal, Joanne Kurtzberg, Laura Sherwood
Publikováno v:
Molecular Genetics and Metabolism. 123:S82-S83
Autor:
Ahmed Abdelhalim, Li Yan, Steven R. Gill, Patricia K. Duffner, Amy Barczykowski, Kabir Jalal, Randy L. Carter, Ann L. Gill, Denise M. Kay
Publikováno v:
Pediatric Neurology. 46:298-306
The majority of newborns screening positive for Krabbe disease have not exhibited the expected early infantile phenotype, with most clinically normal despite low galactocerebrosidase activity and two mutations. Most are expected to develop the later