Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Genetic Testing|June 10, 2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot villageTheodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou, et al.
Biomedicines|August 26, 2022
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type CClaudia Capitini, Federica Feo, Anna Caciotti, et al.
Italian Journal of Pediatrics|October 26, 2012
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotypeCristina Lovera, Francesco Porta, Anna Caciotti, et al.
Molecules (Basel, Switzerland)|July 9, 2022
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 GangliosidosisFrancesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
SARS-CoV-2 infection in a patient with propionic acidemiaAnna Caciotti, Elena Procopio, Francesca Pochiero, et al.
Current Issues in Molecular Biology|June 26, 2024
Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical CoursesEmanuele Bracciamà, Annamaria Sapuppo, Laura Rapisarda, et al.
Metabolic Brain Disease|June 4, 2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progressionFederica Deodato, Elena Procopio, Angelica Rampazzo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Research in Microbiology|March 22, 2003
Fluctuation of bacteria isolated from elm tissues during different seasons and from different plant organsStefano Mocali, Emanuela Bertelli, Francescopaolo Di Cello, et al.
Stem Cell Research|June 10, 2025
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS geneFederica Feo, Silvia Falliano, Anna Caciotti, et al.
Pageof 4