Pediatría
Departamento
Pitié-Salpêtrière Hospital
París, FranciaPublicaciones en colaboración con investigadoras/es de Pitié-Salpêtrière Hospital (4)
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2006
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Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
Brain and Development, Vol. 28, Núm. 4, pp. 232-242