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Footitt, Emma J.
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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