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Footitt, Emma J.
54
results:
Search for persons
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Format
Online (54)
Mediatypes
E-Books (1)
Articles (Online) (32)
OpenAccess-fulltext (21)
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1
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker f..:
Khalil, Youssef
;
Footitt, Emma
;
Vootukuri, Reddy
...
Journal of Inherited Metabolic Disease. , 2024
Link:
https://doi.org/10.1002/..
?
2
Evolution of Movement Disorders in Patients With CLN2-Batte..:
Spaull, Robert
;
Soo, Audrey K.
;
Batzios, Spyros
...
Neurology. 103 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1212/..
?
3
Non‐syndromic retinal dystrophy associated with biallelic v..:
Lin, Siying
;
Robson, Anthony G.
;
Thompson, Dorothy A.
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
?
4
Clinical experience with glycerol phenylbutyrate in 20 pati..:
Yeo, Mildrid
;
Rehsi, Preeya
;
Dorman, Megan
...
JIMD Reports. 64 (2023) 5 - p. 317-326 , 2023
Link:
https://doi.org/10.1002/..
?
5
BCKDK deficiency: a treatable neurodevelopmental disease am..:
Tangeraas, Trine
;
Constante, Juliana R
;
Backe, Paul Hoff
...
Brain. 146 (2023) 7 - p. 3003-3013 , 2023
Link:
https://doi.org/10.1093/..
?
6
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/..
?
7
Timing of therapy and neurodevelopmental outcomes in 18 fam..:
Tseng, Laura A.
;
Abdenur, Jose E.
;
Andrews, Ashley
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 350-356 , 2022
Link:
https://doi.org/10.1016/..
?
8
Direct replacement of oral sodium benzoate with glycerol ph..:
Yeo, Mildrid
;
Rehsi, Preeya
;
Dorman, Megan
...
JIMD Reports. 63 (2022) 2 - p. 137-145 , 2022
Link:
https://doi.org/10.1002/..
?
9
Mucolipidosis type II growth trajectories and requirement f..:
Davison, James
;
Pritchard, Melissa
;
Footitt, Emma
...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S35 , 2022
Link:
https://doi.org/10.1016/..
?
10
Association Between Lysine Reduction Therapies and Cognitiv..:
Coughlin, Curtis R.
;
Tseng, Laura A.
;
Bok, Levinus A.
...
Neurology. 99 (2022) 23 - p. , 2022
Link:
https://doi.org/10.1212/..
?
11
Clinical status, biochemical profile and management of a si..:
Keshavan, Nandaki
;
Wood, Michelle
;
Alderson, Lucy M.
...
JIMD Reports. 63 (2021) 2 - p. 123-130 , 2021
Link:
https://doi.org/10.1002/..
?
12
Consensus guidelines for the diagnosis and management of py..:
Coughlin II, Curtis R.
;
Tseng, Laura A.
;
Abdenur, Jose E.
...
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 178-192 , 2020
Link:
https://doi.org/10.1002/..
?
13
Urea Cycle Related Amino Acids Measured in Dried Bloodspots..:
Baruteau, Julien
;
Khalil, Youssef
;
Grunewald, Stephanie
...
Metabolites. 9 (2019) 11 - p. 275 , 2019
Link:
https://doi.org/10.3390/..
?
14
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibrobl..:
Reid, Emma S.
;
Williams, Hywel
;
Anderson, Glenn
...
Journal of Inherited Metabolic Disease. 40 (2017) 3 - p. 385-394 , 2017
Link:
https://doi.org/10.1007/..
?
15
An LC–MS/MS-Based Method for the Quantification of Pyridox(..:
Wilson, Matthew P.
;
Footitt, Emma J.
;
Papandreou, Apostolos
...
Analytical Chemistry. 89 (2017) 17 - p. 8892-8900 , 2017
Link:
https://doi.org/10.1021/..
1-15