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PubPharm (90)
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
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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3
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
enthalten in:
The Journal of clinical investigation
| 2023
von
Muschol, N.
|
Koehn, A.
|
von Cossel, K.
| +16
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4
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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5
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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6
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
enthalten in:
The Journal of pediatrics
| 2022
von
Okur, I.
|
Ezgu, F.
|
Giugliani, R.
| +18
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7
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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8
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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9
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria
enthalten in:
Journal of inherited metabolic disease
| 2021
von
Aitkenhead, L.
|
Krishna, G.
|
Ellerton, C.
| +10
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10
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
enthalten in:
The New England journal of medicine
| 2021
von
100,000 Genomes Project Pilot Investigators
|
Smedley, D.
|
Smith, K.
| +98
CommentIn: Nat Med. 2022 Feb;28(2):241-242. - PMID 35132266
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