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Ellaway, Carolyn
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1

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/..
 
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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/..
 
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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/..
 
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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/..
 
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5

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/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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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/..
 
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15

The relationship between beta-ureidopropionase deficiency d..:

Righetti, Sarah ; Allcock, Richard J.N. ; Yaplito-Lee, Joy...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 62-67 , 2022
Link: https://doi.org/10.1016/..
 
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