E-LIB Suche - Ergebnisse für: Murphy, Elaine

1

Raised CK and acute kidney injury following intense exercis..:

Quinlivan, Ros ; Murphy, Elaine ; Pula, Shpresa...
Neuromuscular Disorders. 34 (2024) - p. 49-53 , 2024

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

2

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

3

Trials with non-toxic baits for stoats and feral cats:

Rickett, Jenny ; Wallace, Penny ; Murphy, Elaine
New Zealand Journal of Ecology. 47 (2023) 1 - p. 1-5 , 2023

Link: https://www.jstor.org/st..

4

The Queen Square Adult Leukodystrophy Group: 10 years-exper..:

Wade, Charles ; Williams, Thomas ; Merwick, Áine...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

5

Investigation of the relationship between phenylalanine in ..:

Carling, Rachel S. ; Barclay, Zoe ; Cantley, Nathan...
JIMD Reports. 64 (2023) 6 - p. 468-476 , 2023

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

6

Leukoencephalopathy caused by a 17p13.3 microdeletion:

Wade, Charles ; Williams, Thomas ; Labrum, Robyn...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 3 - p. 290-292 , 2023

Link: https://doi.org/10.1136/..

7

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
Journal of Inherited Metabolic Disease. , 2023

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

8

Cardiovascular involvement in later-onset malonyl-CoA decar..:

Monda, Emanuele ; Bakalakos, Athanasios ; Syrris, Petros...
European Journal of Medical Genetics. 66 (2023) 12 - p. 104885 , 2023

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

9

N°353 – Movement disorder analysis: An aid in diagnosing a ..:

Khalil, Mohamed ; Hale, Blake ; Shribman, Samuel..
Clinical Neurophysiology. 150 (2023) - p. e182-e183 , 2023

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

10

Triheptanoin for the treatment of long‐chain fatty acid oxi..:

Vockley, Jerry ; Burton, Barbara K. ; Berry, Gerard...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 943-955 , 2023

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

11

The management and clinical outcomes of pregnancies in wome..:

Stepien, Karolina M. ; Langendonk, Janneke G. ; Dao, Myriam...
Journal of Inherited Metabolic Disease. , 2023

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

12

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia. 64 (2023) 6 - p. 1612-1626 , 2023

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

13

A rare case of nephrotic syndrome and Tangier disease:

Gama, Rouvick ; Murphy, Elaine ; Salisbury, Jon...
CEN Case Reports. 12 (2022) 3 - p. 265-269 , 2022

Link: https://doi.org/10.1007/..

14

OP017: Triheptanoin for the treatment of Long-Chain Fatty A..:

Vockley, Jerry ; Burton, Barbara ; Berry, Gerard...
Genetics in Medicine. 24 (2022) 3 - p. S349 , 2022

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

15

A Systematic Review investigating the Effectiveness of Exer..:

Bordoli, Claire ; Murphy, Elaine ; Varley, Ian..
Therapeutic Advances in Rare Disease. 3 (2022) - p. 263300402210764 , 2022

Link: https://doi.org/10.1177/..