E-LIB Suche - Ergebnisse für: Michl, Emma

1

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/..

2

P028: Improved neurocognitive outcomes in neuronopathic muc..:

Michl, Emma ; Goodlett, Benjamin ; Duncan, Christine.
Genetics in Medicine Open. 1 (2023) 1 - p. 100038 , 2023

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

3

Correction: Ketogenic diet as a glycine lowering therapy in..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

4

O01: Outcomes of newborn screening for mucopolysaccharidosi..:

Siddharth, Aishwarya ; Grassie, Christina ; Michl, Emma...
Genetics in Medicine Open. 1 (2023) 1 - p. 100002 , 2023

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

5

Combined PMM2-CDG and hereditary fructose intolerance in a ..:

Hong, Xinying ; Edmondson, Andrew C. ; Strong, Alanna...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107682 , 2023

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

6

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/..

7

Extensive diagnostic odyssey for a patient with Gaucher dis..:

Michl, Emma ; Bledsoe, Jacob R. ; Voss, Stephan D....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S82 , 2022

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

8

Making the case for global carrier screening for Tay-Sachs ..:

Michl, Emma ; Tan, Wen-Hann ; Gonzalez, Efren...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S83 , 2022

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

9

Ketogenic diet as a glycine lowering therapy in nonketotic ..:

Shelkowitz, Emily ; Saneto, Russell P. ; Al-Hertani, Walla...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Correction: Ketogenic diet as a glycine lowering therapy in..:

Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10012511/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Correction: Ketogenic diet as a glycine lowering therapy in..:

Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla...
https://research.rug.nl/en/publications/09932183-d916-4bc4-bc7d-4502f80f9afb. , 2023

Link: https://hdl.handle.net/1..

12

Ketogenic diet as a glycine lowering therapy in nonketotic ..:

Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla...
https://research.rug.nl/en/publications/f2cfe85a-adac-4fa3-aa56-6390db598000. , 2022

Link: https://hdl.handle.net/1..

13

Ketogenic diet as a glycine lowering therapy in nonketotic ..:

Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720968/. , 2022

Link: http://www.ncbi.nlm.nih...

14

O01: Outcomes of newborn screening for mucopolysaccharidosi..:

Aishwarya Siddharth ; Christina Grassie ; Emma Michl...
http://www.sciencedirect.com/science/article/pii/S294977442300002X. , 2023

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

15

P028: Improved neurocognitive outcomes in neuronopathic muc..:

Emma Michl ; Benjamin Goodlett ; Christine Duncan.
http://www.sciencedirect.com/science/article/pii/S2949774423000389. , 2023

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