E-LIB Suche - Ergebnisse für: Michael T. Geraghty

1

Assessing the quality and value of metabolic chart data for..:

Iverson, Ryan ; Taljaard, Monica ; Geraghty, Michael T....
BMC Pediatrics. 24 (2024) 1 - p. , 2024

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

2

Cover Image, Volume 58, Number 7, July 2023:

Hunter‐Schouela, Julia ; Geraghty, Michael T. ; Hegele, Robert A....
Pediatric Pulmonology. 58 (2023) 7 - p. , 2023

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

3

First reports of primary ciliary dyskinesia caused by a sha..:

Hunter‐Schouela, Julia ; Geraghty, Michael T. ; Hegele, Robert A....
Pediatric Pulmonology. 58 (2023) 7 - p. 1942-1949 , 2023

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

4

Multi-omics approach characterises CRLS1 deficiency, a nove..:

Balasubramaniam, Shanti ; Lee, Richard G. ; Padman, Benjamin...
Pathology. 54 (2022) - p. S13 , 2022

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

5

Deleterious variants in CRLS1 lead to cardiolipin deficienc..:

Lee, Richard G ; Balasubramaniam, Shanti ; Stentenbach, Maike...
Human Molecular Genetics. 31 (2022) 21 - p. 3597-3612 , 2022

Link: https://doi.org/10.1093/..

6

A recurrent de novo ATP5F1A substitution associated with ne..:

Lines, Matthew A. ; Cuillerier, Alexanne ; Chakraborty, Pranesh...
European Journal of Human Genetics. 29 (2021) 11 - p. 1719-1724 , 2021

Link: https://doi.org/10.1038/..

7

Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyra..:

van Rijt, Willemijn J. ; Van Hove, Johan L. K. ; Vaz, Frédéric M....
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 926-938 , 2021

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

8

Outcomes in pediatric studies of medium-chain acyl-coA dehy..:

Canadian Inherited Metabolic Diseases Research Network ; Pugliese, Michael ; Tingley, Kylie...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

9

Channelopathies Are a Frequent Cause of Genetic Ataxias Ass..:

Gauquelin, Laurence ; Hartley, Taila ; Tarnopolsky, Mark...
Movement Disorders Clinical Practice. 7 (2020) 8 - p. 940-949 , 2020

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

10

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) tre..:

van Rijt, Willemijn J. ; Jager, Emmalie A. ; Allersma, Derk P....
Genetics in Medicine. 22 (2020) 5 - p. 908-916 , 2020

Link: https://doi.org/10.1038/..

11

Direct Health Care Costs, Health Services Utilization, and ..:

Siddiq, Shabnaz ; Jimenez‐Rivera, Carolina ; Kuenzig, M. Ellen...
Journal of Pediatric Gastroenterology and Nutrition. 70 (2020) 4 - p. 436-443 , 2020

Link: https://doi.org/10.1097/..

12

Evaluation of the quality of clinical data collection for a..:

on behalf of the Canadian Inherited Metabolic Diseases Research Network ; Tingley, Kylie ; Lamoureux, Monica...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

13

Channelopathies are a frequent cause of genetic ataxias ass..:

Gauquelin, Laurence ; Hartley, Taila ; Tarnopolsky, Mark...
Neurology. 94 (2020) 15_supplement - p. , 2020

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

14

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1321-1332 , 2020

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

15

Carnitine uptake defect due to a 5′UTR mutation in a pedigr..:

Verbeeten, Kate C. ; Lamhonwah, Anne-Marie ; Bulman, Dennis...
Molecular Genetics and Metabolism. 129 (2020) 3 - p. 213-218 , 2020

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