E-LIB Suche - Ergebnisse für: Orsini, Joseph

1

Newborn Screening for Krabbe Disease and Identification of ..:

Bonkowsky, Joshua L. ; Wilkes, Jacob ; Baker, Monika...
Pediatric Neurology. 151 (2024) - p. 65-67 , 2024

Link: https://doi.org/10.1016/..

2

P506: Long-term results and challenges of newborn screening..:

Xiao, Jing ; Bradley, Sarah ; Johnson, Christopher...
Genetics in Medicine Open. 2 (2024) - p. 101405 , 2024

Link: https://doi.org/10.1016/..

3

Newborn screening for Krabbe disease: Status quo and recomm..:

Matern, Dietrich ; Basheeruddin, Khaja ; Klug, Tracy...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107955 , 2024

Link: https://doi.org/10.1016/..

4

ScreenPlus: A comprehensive, multi-disorder newborn screeni..:

Kelly, Nicole R. ; Orsini, Joseph J. ; Goldenberg, Aaron J....
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101037 , 2024

Link: https://doi.org/10.1016/..

5

Newborn Screening for Krabbe Disease: Status Quo and Recomm..:

Matern, Dietrich ; Basheeruddin, Khaja ; Klug, Tracy L....
International Journal of Neonatal Screening. 10 (2024) 1 - p. 10 , 2024

Link: https://doi.org/10.3390/..

6

Harmonization of Newborn Screening Results for Pompe Diseas..:

Dorley, M. Christine ; Dizikes, George J. ; Pickens, Charles Austin...
International Journal of Neonatal Screening. 9 (2023) 1 - p. 11 , 2023

Link: https://doi.org/10.3390/..

7

Moving away from one disease at a time: Screening, trial de..:

Lekstrom‐Himes, Julie ; Brooks, P J ; Koeberl, Dwight D....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 1 - p. 30-43 , 2023

Link: https://doi.org/10.1002/..

8

Newborn screening for metachromatic leukodystrophy (MLD): A..:

Gelb, Michael H. ; Wasserstein, Melissa ; Orsini, Joseph J....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107111 , 2023

Link: https://doi.org/10.1016/..

9

VUS: Variant of uncertain significance or very unclear situ..:

Kemp, Stephan ; Orsini, Joseph J. ; Ebberink, Merel S...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107678 , 2023

Link: https://doi.org/10.1016/..

10

When is the best time to screen and evaluate for treatable ..:

Parisi, Melissa A. ; Caggana, Michele ; Cohen, Jennifer L....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 1 - p. 44-55 , 2023

Link: https://doi.org/10.1002/..

11

Liquid Chromatography–Tandem Mass Spectrometry in Newborn S..:

Gelb, Michael H. ; Basheeruddin, Khaja ; Burlina, Alberto...
International Journal of Neonatal Screening. 8 (2022) 4 - p. 62 , 2022

Link: https://doi.org/10.3390/..

12

Screenplus: A model for collective funding of pilot newborn..:

Kelly, Nicole R. ; Boychuk, Natalie ; Ouyang, Wei...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S65-S66 , 2022

Link: https://doi.org/10.1016/..

13

Population-Based Screening of Newborns: Findings From the N..:

Brower, Amy ; Chan, Kee ; Williams, Marc...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

14

MRI surveillance of boys with X‐linked adrenoleukodystrophy..:

Mallack, Eric J. ; Turk, Bela R. ; Yan, Helena...
Journal of Inherited Metabolic Disease. 44 (2021) 3 - p. 728-739 , 2021

Link: https://doi.org/10.1002/..

15

Consensus recommendations for the classification and long-t..:

Thompson-Stone, Robert ; Ream, Margie A. ; Gelb, Michael...
Molecular Genetics and Metabolism. 134 (2021) 1-2 - p. 53-59 , 2021

Link: https://doi.org/10.1016/..