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/vufind/Search/Results?lookfor=%22Footitt%2C+Emma%22&type=Person&sort=year
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PubPharm (60)
1
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Gurung, S.
|
Karamched, S.
|
Perocheau, D.
| +38
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2
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
enthalten in:
JIMD reports
| 2023
von
Yeo, M.
|
Rehsi, P.
|
Dorman, M.
| +6
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3
BCKDK deficiency : a treatable neurodevelopmental disease amenable to newborn screening
enthalten in:
Brain : a journal of neurology
| 2023
von
Tangeraas, T.
|
Constante, J.
|
Backe, P.
| +28
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4
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
enthalten in:
JIMD Reports
| 2023
von
Yeo, M.
|
Rehsi, P.
|
Dorman, M.
| +6
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5
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
enthalten in:
Neurology
| 2022
von
Coughlin, C.
|
Tseng, L.
|
Bok, L.
| +21
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6
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
enthalten in:
Nature communications
| 2022
von
Macken, W.
|
Falabella, M.
|
McKittrick, C.
| +80
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7
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
enthalten in:
Molecular genetics and metabolism
| 2022
von
Tseng, L.
|
Abdenur, J.
|
Andrews, A.
| +15
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8
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders
enthalten in:
JIMD reports
| 2022
von
Yeo, M.
|
Rehsi, P.
|
Dorman, M.
| +6
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9
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
enthalten in:
JIMD reports
| 2022
von
Keshavan, N.
|
Wood, M.
|
Alderson, L.
| +7
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10
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
enthalten in:
JIMD Reports
| 2022
von
Keshavan, N.
|
Wood, M.
|
Alderson, L.
| +7
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Medienart
60
Aufsätze
43
E-Artikel
43
E-Ressourcen
17
Gedruckte Aufsätze
Zeitschriftentitel
22
Journal of inherited metabolic disease
5
JIMD reports
4
Molecular genetics and metabolism
3
Analytical chemistry
3
Brain : a journal of neurology
3
JIMD Reports
2
American journal of human genetics
2
Journal of neurochemistry
2
Journal of pharmacy and pharmacology
2
Orphanet journal of rare diseases
1
Brain
1
Developmental medicine & child neurology
1
Developmental medicine and child neurology
1
Journal of Inherited Metabolic Disease
1
Metabolites
1
Movement disorders
1
Movement disorders : official journal of the Mo...
1
Nature communications
1
Neurology
1
Neurology. Genetics
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Thema
26
Journal Article
16
Research Support, Non-U.S. Gov't
10
Pyridoxal Phosphate
7
5V5IOJ8338
6
KV2JZ1BI6Z
6
Pyridoxine
4
Case Reports
4
K3Z4F929H6
4
Lysine
4
epilepsy
3
8059-24-3
3
Aldehyde Dehydrogenase
3
Bile Acid
3
Biomarkers
3
Cerebral Spinal Fluid
3
Cerebral Spinal Fluid Sample
3
Cholestatic Liver Disease
3
Cholic Acid
3
EC 1.2.1.3
3
Fast Atom Bombardment Mass Spectrometry
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Erscheinungszeitraum
15
2020-
45
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
52
Englisch
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