|
🐜
|
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence
30 auth.
A. Jefferson,
H. Leonard,
A. Siafarikas,
H. Woodhead,
S. Fyfe,
L. Ward,
C. Munns,
K. Motil,
D. Tarquinio,
J. Shapiro,
T. Brismar,
B. Ben-Zeev,
Anne-Marie Bisgaard,
G. Coppola,
C. Ellaway,
...
M. Freilinger,
Suzanne P. Geerts,
P. Humphreys,
Mary D. Jones,
J. Lane,
G. Larsson,
M. Lotan,
A. Percy,
M. Pineda,
S. Skinner,
B. Syhler,
Sue Thompson,
B. Weiss,
I. Witt Engerström,
J. Downs
|
6 |
2016 |
6
🐜
|
|
🐜
|
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches
24 auth.
B. Ryder,
M. Inbar‐Feigenberg,
Emma Glamuzina,
Rebecca Halligan,
R. Vara,
Aoife Elliot,
D. Coman,
Tahlee Minto,
K. Lewis,
M. Schiff,
...
S. Vijay,
Rhonda Akroyd,
Sue Thompson,
A. Macdonald,
Abigail J. M. Woodward,
J. Gribben,
S. Grunewald,
K. Belaramani,
M. Hall,
N. Haak,
B. Devanapalli,
A. Tolun,
Callum Wilson,
K. Bhattacharya
|
4 |
2021 |
4
🐜
|
|
🐜
|
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
8 auth.
K. Bhattacharya,
W. Matar,
A. Tolun,
B. Devanapalli,
Sue Thompson,
T. Dalkeith,
...
Kate S. Lichkus,
M. Tchan
|
3 |
2020 |
3
🐜
|
|
🐜
|
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
8 auth.
G. Ho,
I. Alexander,
K. Bhattacharya,
Barbara Dennison,
C. Ellaway,
Sue Thompson,
...
B. Wilcken,
J. Christodoulou
|
3 |
2013 |
3
🐜
|
|
🐜
|
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia
11 auth.
Noha Elserafy,
Sue Thompson,
T. Dalkeith,
M. Stormon,
G. Thomas,
A. Shun,
...
J. Sawyer,
Shanti Balasubramanian,
K. Bhattacharya,
N. Badawi,
C. Ellaway
|
3 |
2021 |
3
🐜
|
|
🐢
|
Dietary Management of the Ketogenic Glycogen Storage Diseases
K. Bhattacharya,
Jennifer Pontin,
Sue Thompson
|
2 |
2016 |
2
🐢
|
|
🐜
|
Improving health outcomes in Rett syndrome
9 auth.
J. Downs,
H. Leonard,
D. Croft,
M. Ravikumara,
Katherine E. Bathgate,
C. Ellaway,
...
Sue Thompson,
A. Percy,
G. Baikie
|
0 |
2013 |
0
🐜
|
