METABOLISMOAREN SORTZETIKO NAHASMENDUAK
Hospital Clinic Barcelona
Barcelona, EspañaHospital Clinic Barcelona-ko ikertzaileekin lankidetzan egindako argitalpenak (5)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
2022
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
2021
2016
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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7
2015
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Cholestane-3β,5α,6β-triol: High levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency
Journal of Lipid Research, Vol. 56, Núm. 10, pp. 1926-1935