Anna Caciotti

Florence, Italy

Last Updated: 09/26/2026

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Found 29 publications

Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*).

Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*).

Journal: Stem cell research
Published: May 18, 2026

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 gene.

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 gene.

Journal: Stem cell research
Published: April 18, 2025

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Journal: International journal of neonatal screening
Published: March 11, 2025

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Journal: European journal of neurology
Published: December 04, 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 Courses.

Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.

Journal: Current issues in molecular biology
Published: April 21, 2024

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.

Journal: Molecules (Basel, Switzerland)
Published: December 22, 2023

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

Journal: Biomedicines
Published: July 07, 2022

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.

Journal: Molecules (Basel, Switzerland)
Published: June 01, 2022

Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant.

Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant.

Journal: Frontiers in pediatrics
Published: April 28, 2022

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.

Journal: International journal of molecular sciences
Published: March 21, 2022

Morquio B disease: From pathophysiology towards diagnosis.

Morquio B disease: From pathophysiology towards diagnosis.

Journal: Molecular genetics and metabolism
Published: November 12, 2020

High frequency of biotinidase deficiency in Italian population identified by newborn screening.

High frequency of biotinidase deficiency in Italian population identified by newborn screening.

Journal: Molecular genetics and metabolism reports
Published: October 15, 2020
Showing 1-12 of 29

Last Updated: 09/26/2026