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Journal of Inherited Metabolic Disease
|
July 10, 2016
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Maria Monticelli, Tiago Ferro, Jaak Jaeken, et al.
International Journal of Molecular Sciences
|
June 26, 2025
Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations
Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, et al.
Biochimie
|
March 8, 2024
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation
Maria Monticelli, Bruno Hay Mele, Demi Marie Wright, et al.
Journal of Biomedical Informatics
|
May 28, 2025
Computational strategies in nutrigenetics: Constructing a reference dataset of nutrition-associated genetic polymorphisms
Giovanni Maria De Filippis, Maria Monticelli, Alessandra Pollice, et al.
International Journal of Molecular Sciences
|
January 17, 2020
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, et al.
International Journal of Molecular Sciences
|
August 1, 2018
The Analysis of Variants in the General Population Reveals That <i>PMM2</i> Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
Valentina Citro, Chiara Cimmaruta, Maria Monticelli, et al.
International Journal of Molecular Sciences
|
March 11, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
Supansa Pantoom, Larissa Hules, Christopher Schöll, et al.
Elife
|
October 10, 2022
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
April 1, 2025
Beneficial effects of Glc-1,6-P<sub>2</sub> modulation on mutant phosphomannomutase-2
Maria Monticelli, Debora Paris, Maria Chiara Monti, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
Journal of Inherited Metabolic Disease
|
July 10, 2016
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Maria Monticelli, Tiago Ferro, Jaak Jaeken, et al.
International Journal of Molecular Sciences
|
June 26, 2025
Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations
Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, et al.
Biochimie
|
March 8, 2024
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation
Maria Monticelli, Bruno Hay Mele, Demi Marie Wright, et al.
Journal of Biomedical Informatics
|
May 28, 2025
Computational strategies in nutrigenetics: Constructing a reference dataset of nutrition-associated genetic polymorphisms
Giovanni Maria De Filippis, Maria Monticelli, Alessandra Pollice, et al.
International Journal of Molecular Sciences
|
January 17, 2020
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, et al.
International Journal of Molecular Sciences
|
August 1, 2018
The Analysis of Variants in the General Population Reveals That <i>PMM2</i> Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
Valentina Citro, Chiara Cimmaruta, Maria Monticelli, et al.
International Journal of Molecular Sciences
|
March 11, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, et al.
International Journal of Molecular Sciences
|
April 12, 2022
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
Supansa Pantoom, Larissa Hules, Christopher Schöll, et al.
Elife
|
October 10, 2022
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
April 1, 2025
Beneficial effects of Glc-1,6-P<sub>2</sub> modulation on mutant phosphomannomutase-2
Maria Monticelli, Debora Paris, Maria Chiara Monti, et al.
Page
of 4