E-LIB Suche - Ergebnisse für: Hertzog, Ashley

1

P191: Mitochondrial dysfunction in Rett syndrome: Searching..:

Hertzog, Ashley ; Tolun, Adviye Ayper ; Ellaway, Carolyn..
Genetics in Medicine Open. 1 (2023) 1 - p. 100220 , 2023

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

2

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an ..:

Coupe, Simone ; Hertzog, Ashley ; Foran, Carolyn...
Clinical Case Reports. 11 (2023) 2 - p. , 2023

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

3

Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on ..:

Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan...
Nutrients. 15 (2023) 3 - p. 531 , 2023

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

4

STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSI..:

Selvanathan, Arthavan ; Hertzog, Ashley ; Ellaway, Carolyn...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107480 , 2023

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

5

Intronic variants in inborn errors of metabolism: Beyond th..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Farnsworth, Elizabeth...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

6

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertain..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Pandithan, Dinusha...
JIMD Reports. 63 (2022) 6 - p. 568-574 , 2022

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

7

A serendipitous journey to a promoter variant: The c.‐106C>..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Halligan, Rebecca...
JIMD Reports. 63 (2022) 4 - p. 271-275 , 2022

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

8

Inborn errors of metabolism refuse to stay‐at‐home: Experie..:

Gutierrez, Bea ; Hertzog, Ashley ; Badman, Susan.
Journal of Paediatrics and Child Health. 59 (2022) 2 - p. 247-252 , 2022

Link: https://doi.org/10.1111/..

9

Purpuric, delayed child: Beyond septicaemia and into inborn..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Tolun, Adviye A..
Journal of Paediatrics and Child Health. 57 (2021) 10 - p. 1703-1706 , 2021

Link: https://doi.org/10.1111/..

10

Regulation of mitochondrial metabolism in murine skeletal m..:

Montgomery, Magdalene K. ; Osborne, Brenna ; Brandon, Amanda E....
The FASEB Journal. 33 (2019) 11 - p. 12264-12276 , 2019

Link: https://doi.org/10.1096/..

11

Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on ..:

Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/. , 2023

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

12

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an ..:

Coupe, Simone ; Hertzog, Ashley ; Foran, Carolyn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939576/. , 2023

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

13

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertain..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Pandithan, Dinusha...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626669/. , 2022

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

14

Intronic variants in inborn errors of metabolism: Beyond th..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Farnsworth, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763607/. , 2022

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

15

A serendipitous journey to a promoter variant: The c.‐106C>..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Halligan, Rebecca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259394/. , 2022

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