Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Mew, Nicholas Ah
95  Ergebnisse:
Personensuche X
?
1

P024: Role of muscle biopsy and exome re-analysis in a myst..:

Pickup, Elizabeth ; Sen, Kuntal ; Moore, Steven...
Genetics in Medicine Open.  2 (2024)  - p. 100901 , 2024
Link: https://doi.org/10.1016/..
 
?
2

Impact of supplementation with L-citrulline/arginine after ..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108112 , 2024
Link: https://doi.org/10.1016/..
 
?
3

Assessing the functional impact of ASL missense variants us..:

Tang, Michelle ; Cromie, Gareth ; Lo, Russell...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108199 , 2024
Link: https://doi.org/10.1016/..
 
?
4

P007: PP4 criteria specifications for proximal urea cycle d..:

Simpson, Kara ; Mew, Nicholas Ah ; Caldovic, Ljubica...
Genetics in Medicine Open.  2 (2024)  - p. 100884 , 2024
Link: https://doi.org/10.1016/..
 
?
5

A ten-year retrospective analysis of urea cycle disorder di..:

MacLeod, Erin ; Failla, Allison ; Simpson, Kara.
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108232 , 2024
Link: https://doi.org/10.1016/..
 
?
6

Thiamine responsive MSUD due to splice altering variants: C..:

Billington, Charles ; MacLeod, Erin ; Jacobson, Jenny...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108183 , 2024
Link: https://doi.org/10.1016/..
 
?
7

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine.  26 (2024)  4 - p. 101039 , 2024
Link: https://doi.org/10.1016/..
 
?
8

CURATION OF SEQUENCE VARIANTS IN UREA CYCLE GENES:

Simpson, Kara ; Mew, Nicholas Ah. ; Caldovic, Ljubica...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107488 , 2023
Link: https://doi.org/10.1016/..
 
?
9

BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLO..:

Caldovic, Ljubica ; Li, Tina ; Sonaimuthu, Parthasarathy...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107395 , 2023
Link: https://doi.org/10.1016/..
 
?
10

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open.  1 (2023)  1 - p. 100005 , 2023
Link: https://doi.org/10.1016/..
 
?
11

Domino liver transplantation: Expanding the liver donor poo..:

Ekong, Udeme D. ; Reddy, Sahithi ; Yazigi, Nada...
Liver Transplantation.  28 (2022)  12 - p. 1947-1950 , 2022
Link: https://doi.org/10.1002/..
 
?
12

1-13C-propionate breath testing as a surrogate endpoint to ..:

Manoli, Irini ; Pass, Alexandra R. ; Harrington, Elizabeth A....
Genetics in Medicine.  23 (2021)  8 - p. 1522-1533 , 2021
Link: https://doi.org/10.1038/..
 
?
13

Correction to: 1-13C-propionate breath testing as a surroga..:

Manoli, Irini ; Pass, Alexandra R. ; Harrington, Elizabeth A....
Genetics in Medicine.  23 (2021)  11 - p. 2233 , 2021
Link: https://doi.org/10.1038/..
 
?
14

Choosing between medical management and liver transplant in..:

Gerstein, Maya T. ; Markus, Anne R. ; Gianattasio, Kan Z....
Journal of Inherited Metabolic Disease.  43 (2020)  3 - p. 438-458 , 2020
Link: https://doi.org/10.1002/..
 
?
15

Consensus guidelines for management of hyperammonaemia in p..:

Raina, Rupesh ; Bedoyan, Jirair K. ; Lichter-Konecki, Uta...
Nature Reviews Nephrology.  16 (2020)  8 - p. 471-482 , 2020
Link: https://doi.org/10.1038/..
 
1-15