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Molecular Therapy. Nucleic Acids
|
October 26, 2016
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations
Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, et al.
European Journal of Gastroenterology & Hepatology
|
January 12, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
Anna Caciotti, Maria Alice Donati, Andrea Adami, et al.
European Journal of Gastroenterology & Hepatology
|
February 3, 2007
A diagnosis of Fabry gastrointestinal disease by chance: a case report
Sandro Feriozzi, Elena Sanz Torre, Teresa Valentina Ranalli, et al.
Clinical Genetics
|
July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified
Stefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, et al.
Chembiochem : a European Journal of Chemical Biology
|
March 24, 2022
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers
Costanza Vanni, Francesca Clemente, Paolo Paoli, et al.
Angewandte Chemie (International Ed. in English)
|
March 20, 2020
Imino- and Azasugar Protonation Inside Human Acid β-Glucosidase, the Enzyme that is Defective in Gaucher Disease
Camilla Matassini, Julia Warren, Bo Wang, et al.
Journal of Neurology
|
November 2, 2018
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer
Rodolfo Tonin, Serena Catarzi, Anna Caciotti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient
Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.
Molecular Genetics and Metabolism
|
February 10, 2006
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population
Ivanka Sinigerska, David Chandler, Vijesh Vaghjiani, et al.
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Search research articles
Search
Showing results (11-20 of 116) with videos related to
Sort By:
Page
of 12
Molecular Therapy. Nucleic Acids
|
October 26, 2016
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations
Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, et al.
European Journal of Gastroenterology & Hepatology
|
January 12, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
Anna Caciotti, Maria Alice Donati, Andrea Adami, et al.
European Journal of Gastroenterology & Hepatology
|
February 3, 2007
A diagnosis of Fabry gastrointestinal disease by chance: a case report
Sandro Feriozzi, Elena Sanz Torre, Teresa Valentina Ranalli, et al.
Clinical Genetics
|
July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified
Stefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, et al.
Chembiochem : a European Journal of Chemical Biology
|
March 24, 2022
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers
Costanza Vanni, Francesca Clemente, Paolo Paoli, et al.
Angewandte Chemie (International Ed. in English)
|
March 20, 2020
Imino- and Azasugar Protonation Inside Human Acid β-Glucosidase, the Enzyme that is Defective in Gaucher Disease
Camilla Matassini, Julia Warren, Bo Wang, et al.
Journal of Neurology
|
November 2, 2018
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer
Rodolfo Tonin, Serena Catarzi, Anna Caciotti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient
Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.
Molecular Genetics and Metabolism
|
February 10, 2006
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population
Ivanka Sinigerska, David Chandler, Vijesh Vaghjiani, et al.
Page
of 12