Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laura Ashbaugh"'
Autor:
Barbara K. Burton, Rachel Hickey, Lauren Hitchins, Vera Shively, Joan Ehrhardt, Laura Ashbaugh, Yin Peng, Khaja Basheeruddin
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 6 (2022)
X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukody
Externí odkaz:
https://doaj.org/article/a55cbda403f942319ca5a6d9d4eebe9c
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 24 (2021)
Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017. Due to the poor specificity of GALC for the diagnosis of Krabbe disease, second-tier
Externí odkaz:
https://doaj.org/article/448a4569835848fdad5d52a1c66e71f5
Autor:
Barbara K. Burton, Vera Shively, Allegra Quadri, Lauren Warn, Jennifer Burton, Dorothy K. Grange, Katherine Christensen, Daniel Groepper, Laura Ashbaugh, Joan Ehrhardt, Khaja Basheeruddin
Publikováno v:
Molecular Genetics and Metabolism. :107557
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 24, p 24 (2021)
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 24, p 24 (2021)
Volume 7
Issue 2
Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017. Due to the poor specificity of GALC for the diagnosis of Krabbe disease, second-tier
Autor:
Barbara K. Burton, Katherine M. Christensen, Stephen R. Braddock, Lauren Hitchins, Amelia Kirby, Rong Shao, Khaja Basheeruddin, Laura Ashbaugh, Julie Fleischer, George E. Hoganson, Heather Shryock, Daniel Groepper, Conny Moody, Dorothy K. Grange, Rachel Hickey
Publikováno v:
The Journal of pediatrics. 214
Objectives To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois. Study design Tandem mass spectrometry was used to measure iduronate-2-sulfatase (I2S) ac