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PubPharm (161)
1
Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer.
enthalten in:
bioRxiv.org
| 2024
von
Laurent, M.
|
Harb, R.
|
Jenny, C.
| +14
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2
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8)
enthalten in:
Neurology
| 2024
von
Curie, A.
|
Lion-François, L.
|
Valayannopoulos, V.
| +14
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3
Pubertal origin of growth retardation in inborn errors of protein metabolism : A longitudinal cohort study
enthalten in:
Molecular genetics and metabolism
| 2024
von
Busiah, K.
|
Roda, C.
|
Crosnier, A.
| +16
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4
Vitamin deficiencies in children : Lessons from clinical and neuroimaging findings
enthalten in:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
| 2024
von
Dupuy, G.
|
Roux, C.
|
Barrois, R.
| +15
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5
Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy
enthalten in:
Journal of inherited metabolic disease
| 2024
von
Pontoizeau, C.
|
Gaborit, C.
|
Tual, N.
| +13
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6
In vivo corneal confocal microscopy revealing Gaucher disease in a child
enthalten in:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
| 2024
von
Martin, G.
|
Brassier, A.
|
Gabison, E.
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7
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy
enthalten in:
Journal of Inherited Metabolic Disease
| 2024
von
Pontoizeau, C.
|
Gaborit, C.
|
Tual, N.
| +13
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8
Effects of miglustat therapy on neurological disorder and survival in early- infantile Niemann-Pick disease type C: a national French retrospective study
enthalten in:
ResearchSquare.com
| 2023
von
Freihuber, C.
|
Dahmani-Rabehi, B.
|
Brassier, A.
| +11
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9
Association between acute complications in PMM2-CDG patients and haemostasis anomalies : Data from a multicentric study and suggestions for acute management
enthalten in:
Molecular genetics and metabolism
| 2023
von
Wicker, C.
|
Roux, C.
|
Goujon, L.
| +22
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10
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004 : A French real-life observational study
enthalten in:
European journal of neurology
| 2023
von
Tardieu, M.
|
Cudejko, C.
|
Cano, A.
| +32
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American journal of medical genetics. Part A
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Maple syrup urine disease
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