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Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyEffects of hypericin and a chlorin based photosensitizer alone or in combination in squamous cell carcinoma cells in the dark.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduriaImpaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiencyAuthor Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiencyLiver neoplasms in methylmalonic aciduria: An emerging complication
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description
investigador
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researcher
@en
wetenschapper
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name
Patrick Forny
@en
Patrick Forny
@nl
type
label
Patrick Forny
@en
Patrick Forny
@nl
prefLabel
Patrick Forny
@en
Patrick Forny
@nl
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P496
0000-0003-1877-2976