E-LIB Suche - Ergebnisse für: Sacharow, Stephanie

1

Preliminary results from the ongoing aphenity extension stu..:

Sacharow, Stephanie ; Muntau, Ania C. ; Bratkovic, Drago...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108251 , 2024

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

2

Lessons learned from 5-years of experience with pegvaliase ..:

Cooney, Erin ; Ammous, Zineb ; Andersson, Hans...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108304 , 2024

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

3

Strategies to prevent loss to follow-up in PKU: Insights fr..:

Zhu, Emily ; Hollander, Suzanne ; Sacharow, Stephanie
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108275 , 2024

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

4

Clinical study of ferredoxin-reductase-related mitochondrio..:

Campbell, Teresa ; Slone, Jesse ; Metzger, Hallie...
Genetics in Medicine Open. 2 (2024) - p. 100841 , 2024

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

5

Pegvaliase for the treatment of phenylketonuria: Final resu..:

Harding, Cary O. ; Longo, Nicola ; Northrup, Hope...
Molecular Genetics and Metabolism Reports. 39 (2024) - p. 101084 , 2024

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

6

COVID-19 vaccine acceptance in individuals with PKU:

Mangel, Matthew ; Parkin, Kimberly ; Sacharow, Stephanie
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108241 , 2024

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

7

Ecological momentary assessment of anxiety and depression s..:

Hayse, Braden ; Sacharow, Stephanie ; Goodlett, Benjamin.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108223 , 2024

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

8

Pegvaliase treatment for adolescents with phenylketonuria: ..:

Valli, Briana ; Kritzer, Amy ; Sacharow, Stephanie
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108270 , 2024

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

9

P001: Single center experience with the Massachusetts State..:

Grassie, Christina ; Siddharth, Aishwarya ; Michl, Emma...
Genetics in Medicine Open. 1 (2023) 1 - p. 100011 , 2023

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

10

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

11

Neuropsychological assessment of adults with phenylketonuri..:

Christ, Shawn E. ; Clocksin, Hayley E. ; Zalik, Maia...
Molecular Genetics and Metabolism. 139 (2023) 1 - p. 107579 , 2023

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

12

Nutritional status of adults with phenylketonuria on pegval..:

Viau, Krista ; Martell, Leslie ; Wessel, Ann...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101015 , 2023

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

13

Sengers syndrome and AGK-related disorders - Minireview of ..:

Wu, Chen-Han Wilfred ; Caha, Martin ; Smoot, Leslie...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107626 , 2023

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

14

PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WI..:

Levy, Harvey ; Sacharow, Stephanie
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 283 , 2022

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

15

Early presentation with late-onset Pompe disease genotype d..:

Michl, Emma ; Bonello, Kristin ; Yin, Suellen Moli..
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S83 , 2022

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