Pediatría
Servizo
Pitié-Salpêtrière Hospital
París, FranciaPublicacións en colaboración con investigadores/as de Pitié-Salpêtrière Hospital (5)
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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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2017
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Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192
2015
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1