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Acta Ophthalmologica
|
May 9, 2017
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients
Giacomo M Bacci, Maria A Donati, Elisabetta Pasquini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
Lorenzo Ferri, Maria A Donati, Silvia Funghini, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
July 4, 2024
Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, et al.
Human Mutation
|
January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling
Anna Caciotti, Maria Alice Donati, Elena Procopio, et al.
Human Mutation
|
August 20, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database
Amelia Morrone, Anna Caciotti, Robert Atwood, et al.
Pediatric Transplantation
|
May 28, 2022
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure
Andrea Pietrobattista, Marco Spada, Manila Candusso, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
Laura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Organic & Biomolecular Chemistry
|
November 17, 2023
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme <i>N</i>-acetylgalactosamine-6-sulfatase (GALNS)
Francesca Buco, Camilla Matassini, Costanza Vanni, et al.
Molecular Genetics and Metabolism
|
February 9, 2021
Morquio B disease: From pathophysiology towards diagnosis
Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
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Search research articles
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Showing results (81-90 of 116) with videos related to
Sort By:
Page
of 12
Acta Ophthalmologica
|
May 9, 2017
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients
Giacomo M Bacci, Maria A Donati, Elisabetta Pasquini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ
Lorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
Lorenzo Ferri, Maria A Donati, Silvia Funghini, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
July 4, 2024
Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, et al.
Human Mutation
|
January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling
Anna Caciotti, Maria Alice Donati, Elena Procopio, et al.
Human Mutation
|
August 20, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database
Amelia Morrone, Anna Caciotti, Robert Atwood, et al.
Pediatric Transplantation
|
May 28, 2022
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure
Andrea Pietrobattista, Marco Spada, Manila Candusso, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
Laura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Organic & Biomolecular Chemistry
|
November 17, 2023
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme <i>N</i>-acetylgalactosamine-6-sulfatase (GALNS)
Francesca Buco, Camilla Matassini, Costanza Vanni, et al.
Molecular Genetics and Metabolism
|
February 9, 2021
Morquio B disease: From pathophysiology towards diagnosis
Anna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
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of 12