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PubPharm (139)
1
Clinical landscape of citrin deficiency : A global perspective on a multifaceted condition
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Kido, J.
|
Makris, G.
|
Santra, S.
| +1
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2
Exact fluctuation and long-range correlations in a single-file model under resetting
enthalten in:
Physical review. E
| 2024
von
Santra, S.
|
Singh, P.
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3
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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4
Tunable, reversible resistive switching behavior of PVA-zirconia nanocomposite films and validation of the trap-assisted switching mechanism by the selective application of external bias voltages
enthalten in:
Physical chemistry chemical physics : PCCP
| 2023
von
Karmakar, R.
|
Das, A.
|
Dutta, B.
| +5
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5
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology : A retrospective international study
enthalten in:
Epilepsia
| 2023
von
Elkhateeb, N.
|
Olivieri, G.
|
Siri, B.
| +23
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6
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease
enthalten in:
Radiology
| 2023
von
D'Amore, S.
|
Sano, H.
|
Chappell, D.
| +22
CommentIn: Radiology. 2023 Jun;307(5):e230140. - PMID 37367449
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7
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology : A retrospective international study
enthalten in:
Epilepsia
| 2023
von
Elkhateeb, N.
|
Olivieri, G.
|
Siri, B.
| +23
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8
Altered gut microbiome diversity and function in patients with propionic acidemia
enthalten in:
Molecular genetics and metabolism
| 2022
von
Tims, S.
|
Marsaux, C.
|
Pinto, A.
| +8
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9
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology
enthalten in:
bioRxiv.org
| 2022
von
Elkhateeb, N.
|
Olivieri, G.
|
Siri, B.
| +20
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10
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome : Case report of siblings and literature review
enthalten in:
Molecular genetics and metabolism reports
| 2022
von
Sreekantam, S.
|
Smith, L.
|
Stewart, C.
| +5
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Molecular genetics and metabolism
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Journal of inherited metabolic disease
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Orphanet journal of rare diseases
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Journal of pediatric gastroenterology and nutri...
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Journal of Inherited Metabolic Disease
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Clinical chemistry and laboratory medicine
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ResearchSquare.com
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Human mutation
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Journal of chemical crystallography
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Journal of medical genetics
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American journal of human genetics
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European journal of organic chemistry
2
Expert opinion on pharmacotherapy
2
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Biomarkers
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Pyridoxine
5
Betaine
5
Enzyme replacement therapy
5
Randomized Controlled Trial
4
47E5O17Y3R
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570
4
Biology
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Elosulfase alfa
4
Mucopolysaccharidosis IVA
4
Nitric Oxide
4
Phenylalanine
3
0LVT1QZ0BA
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42HK56048U
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Agmatine
3
Alkali metal cations
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2020-
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