E-LIB Suche - Ergebnisse für: Ellaway, Carolyn J.

1

Monitoring and integrated care coordination of patients wit..:

Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. , 2024

2

Impact of citrulline substitution on clinical outcome after..:

Aldrian, Denise ; Waldner, Birgit ; Vogel, Georg F....
Journal of Inherited Metabolic Disease. 47 (2024) 2 - p. 220-229 , 2024

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

3

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107974 , 2024

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

4

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open. 2 (2024) - p. 101385 , 2024

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

5

Fabry‐specific treatment in Australia: time to align eligib..:

Nicholls, Kathleen ; Denaro, Charles ; Tchan, Michel...
Internal Medicine Journal. 54 (2024) 6 - p. 882-890 , 2024

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

6

The collective burden of childhood dementia: a scoping revi..:

Elvidge, Kristina L ; Christodoulou, John ; Farrar, Michelle A...
Brain. 146 (2023) 11 - p. 4446-4455 , 2023

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

7

Characterizing Common Phenotypes Across the Childhood Demen..:

Djafar, Jason V. ; Smith, Nicholas J. ; Johnson, Alexandra M....
Pediatric Neurology. 149 (2023) - p. 75-83 , 2023

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

8

OP58 Challenges In Maintaining Up To Date Health Technology..:

Nicholls, Kathleen ; Denaro, Charles ; Tchan, Michel...
International Journal of Technology Assessment in Health Care. 39 (2023) S1 - p. S16-S16 , 2023

Link: https://doi.org/10.1017/..

9

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/..

10

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/..

11

Diagnosis and management of children with McArdle Syndrome ..:

Adams, Louisa ; Selvanathan, Arthavan ; Batten, Kiera J....
JIMD Reports. 64 (2023) 5 - p. 327-336 , 2023

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

12

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/..

13

Multidisciplinary Management of Rett Syndrome: Twenty Years..:

Vilvarajan, Sandra ; McDonald, Madeleine ; Douglas, Lyndal...
Genes. 14 (2023) 8 - p. 1607 , 2023

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

14

Multiple acyl-Coa dehydrogenase deficiency (MADD) – adult a..:

Devanapalli, Beena ; Tchan, Michel ; Ellaway, Carolyn.
Pathology. 54 (2022) - p. S14 , 2022

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

15

FGF21 outperforms GDF15 as a diagnostic biomarker of mitoch..:

Riley, Lisa G. ; Nafisinia, Michael ; Menezes, Minal J....
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 63-71 , 2022

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