Publicaciones en la fuente MOLECULAR GENETICS AND METABOLISM

Tipo Año Título Fuente
Ponencia2019Safety, tolerability and pharmacokinetics of oral venglustat in Parkinson disease patients with a GBA mutationMOLECULAR GENETICS AND METABOLISM
Resumen congreso2019Screening sp(2)-iminosugar N-glycosides as pharmacological chaperone candidates for a mannosidosis: the effect of aglycone nature and valencyMOLECULAR GENETICS AND METABOLISM
Artículo2019Tailoring the inhibitory versus chaperoning behavior of amphiphilic sp(2)-iminosugar glycomimetics targeting beta-glucocerebrosidase: From micromolar to picomolar chaperones for Gaucher diseaseMOLECULAR GENETICS AND METABOLISM
Ponencia2018Application of iTRAQ shotgun proteomics for revealing metabolic changes related to Gaucher diseaseMOLECULAR GENETICS AND METABOLISM
Ponencia2017Fluorinated chaperone-beta-cyclodextrin formulations for neuronopathic Gaucher diseaseMOLECULAR GENETICS AND METABOLISM
Ponencia2016Descriptive report of the variant adult visceral form non-neuronopathic of Niemann-Pick type C disease in a Spanish seriesMOLECULAR GENETICS AND METABOLISM
Ponencia2016pH-responsive pharmacological chaperones for lysosomal diseaseMOLECULAR GENETICS AND METABOLISM
Artículo2015Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemiaMOLECULAR GENETICS AND METABOLISM
Ponencia2014Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher diseaseMOLECULAR GENETICS AND METABOLISM
Ponencia2014Pulmonary delivery and effects of recombinant acid sphingomyelinase by ICAM-1-targeted nanocarriers in the Niemann-Pick disease mouse modelMOLECULAR GENETICS AND METABOLISM
Ponencia2013Use of the L-idonojirimycin derivatives as pharmacological chaperones for the treatment of Gaucher diseaseMOLECULAR GENETICS AND METABOLISM
Ponencia2011Design of ICAM-1-Targeting Strategies for Brain Delivery of Lysosomal TherapiesMOLECULAR GENETICS AND METABOLISM
Ponencia2009ACRODERMATITIS ACIDEMICA: CLINICAL RETROSPECTIVE STUDYMOLECULAR GENETICS AND METABOLISM
Artículo2002Macrophage inducible nitric oxide synthase gene expression is blocked by a benzothiophene derivative with anti-HIV propertiesMOLECULAR GENETICS AND METABOLISM
Artículo1999Phenylarsine oxide increases intracellular calcium mobility and inhibits Ca2+-dependent ATPase activity in thymocytesMOLECULAR GENETICS AND METABOLISM