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Lysosomal storage disorders: molecular basis and laboratory testing

Human genomics, 2011-03, Vol.5 (3), p.156-169

2011

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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

Italian journal of pediatrics, 2018-11, Vol.44 (Suppl 2), p.129-129, Article 129

2018

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

Molecules (Basel, Switzerland), 2022-06, Vol.27 (13), p.4008

2022

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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.47-58

2020

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

Molecules (Basel, Switzerland), 2024-01, Vol.29 (2), p.453

2024

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SARS-CoV-2 infection in a patient with propionic acidemia

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.306-306, Article 306

2020

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Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-196, Article 196

2020

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Synthesis of " All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors

Molecules (Basel, Switzerland), 2020-10, Vol.25 (19), p.4526

2020

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Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

Stem cell research, 2024-06, Vol.77, p.103431-103431, Article 103431

2024

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

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4422

2022

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The enigmatic role of tafazzin in cardiolipin metabolism

Biochimica et biophysica acta, 2009-10, Vol.1788 (10), p.2003-2014

2009

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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

Stem cell research, 2023-12, Vol.73, p.103235-103235, Article 103235

2023

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

Frontiers in pediatrics, 2022-07, Vol.10

2022

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Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

BMC medical genetics, 2018-10, Vol.19 (1), p.183-183, Article 183

2018

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

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100689-100689, Article 100689

2020

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Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

International journal of molecular sciences, 2018-01, Vol.19 (2), p.345

2018

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

Biomedicines, 2022-08, Vol.10 (8), p.1962

2022

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Galactosialidosis: review and analysis of CTSA gene mutations

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.114-114, Article 114

2013

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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene

Stem cell research, 2022-05, Vol.61, p.102781-102781, Article 102781

2022

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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1371-n/a

2020

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Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

Molecular therapy. Nucleic acids, 2016, Vol.5 (10), p.e380-e380, Article e380

2016

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New clinical and molecular insights on Barth syndrome

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.27-27, Article 27

2013

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Clinical and Molecular Aspects of Cardiomyopathies

Heart failure clinics, 2018-04, Vol.14 (2), p.161-178

2018

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De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

Journal of stroke and cerebrovascular diseases, 2015-11, Vol.24 (11), p.2588-2595

2015

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Cornea Verticillata and Fabry Disease

The Journal of pediatrics, 2013-08, Vol.163 (2), p.609-609

2013

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Lysosomal storage disorders: molecular basis and laboratory testing

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

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

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

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

SARS-CoV-2 infection in a patient with propionic acidemia

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Synthesis of " All-Cis" Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors

Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector

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

The enigmatic role of tafazzin in cardiolipin metabolism

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

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

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

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

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

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

Galactosialidosis: review and analysis of CTSA gene mutations

Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

New clinical and molecular insights on Barth syndrome

Clinical and Molecular Aspects of Cardiomyopathies

De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack

Cornea Verticillata and Fabry Disease

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