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PubPharm (269)
1
METHODS AND COMPOSITIONS FOR TREATING PULMONARY ALVEOLAR PROTEINOSIS RELATED TO MARS MUTATIONS
enthalten in:
Europäisches Patentamt
| 2024
von
HADCHOUEL-DUVERGE ALICE
|
SCHIFF MANUEL
|
PONTOIZEAU CLÉMENT
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2
Management of seizures in patients with primary mitochondrial diseases : consensus statement from the InterERNs Mitochondrial Working Group
enthalten in:
European journal of neurology
| 2024
von
Mancuso, M.
|
Papadopoulou, M.
|
Ng, Y.
| +22
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3
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
enthalten in:
Neurology. Genetics
| 2024
von
Wortmann, S.
|
Feichtinger, R.
|
Abela, L.
| +32
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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
New description of an MRPS2 homozygous patient : Further features to help expend the phenotype
enthalten in:
European journal of medical genetics
| 2024
von
Papadopoulos, T.
|
Gaignard, P.
|
Schiff, M.
| +5
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6
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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7
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
enthalten in:
Frontiers in genetics
| 2024
von
Mansour-Hendili, L.
|
Gitiaux, C.
|
Harion, M.
| +16
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8
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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9
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
enthalten in:
bioRxiv.org
| 2023
von
Stenton, S.
|
Shimura, M.
|
Piekutowska-Abramczuk, D.
| +65
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10
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
enthalten in:
ResearchSquare.com
| 2023
von
Roesch, S.
|
O´Sullivan, A.
|
Tschani, S.
| +26
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Journal of inherited metabolic disease
24
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19
Orphanet journal of rare diseases
11
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Annals of neurology
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Documenta ophthalmologica
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Genetics in medicine : official journal of the ...
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Human mutation
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AE28F7PNPL
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