List of works - Amelia Morrone

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

scientific article published on 29 September 2016

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

scientific article published in July 2001

A diagnosis of Fabry gastrointestinal disease by chance: a case report

scientific article published on 01 February 2007

A genetic modifier of symptom onset in Pompe disease

scientific article published on 25 March 2019

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

scientific article

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

scientific article published on 01 February 2006

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

scientific article published on April 2012

Asymptomatic dystrophinopathy

scientific article published on 01 March 1997

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

scientific article published on 16 November 2018

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

scientific article published on 18 March 2015

Brush border intestinal enzymes after multiple daily fractionation

scientific article published on 01 March 1987

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

scientific article

Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties

scientific article published on 03 May 2021

Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials.

scientific article published in April 2018

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

scientific article

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

scientific article

Cornea verticillata and Fabry disease

scientific article published on 13 April 2013

Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

scientific article

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

scientific article published on 19 August 2015

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

scientific article

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

scientific article published on 25 October 2016

Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes

scientific article published on 22 March 2019

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient

scientific article published on 01 August 1996

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

scientific article published on 24 April 2008

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

scientific article published on 25 May 2011

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

scientific article published on 9 March 2015

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

scientific article

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

scientific article published on 01 December 2005

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

scientific article published on 08 February 2006

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.

scientific article published on 21 February 2018

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

scientific article

GALNS gene expression profiling in Morquio A patients' fibroblasts.

scientific article

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Galactosialidosis: review and analysis of CTSA gene mutations

scientific article published on 02 August 2013

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

scientific article published on 01 June 2002

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

scientific article published in January 2006

Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.

scientific article published on September 2015

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

scientific article

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

scientific article published on 01 January 1994

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

scientific article published on 09 July 2009

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

scientific article published on 24 February 2012

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

scientific article published on 18 March 2015

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

scientific article published on 20 September 2013

Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?

scientific article published on 01 May 2009

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

scientific article published on 24 January 2018

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

scientific article published on 31 October 2013

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

article

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

scientific article

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database

scientific article

Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors

scientific article published on 01 November 2018

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

scientific article published on 28 December 2012

New clinical and molecular insights on Barth syndrome

scientific article published on 14 February 2013

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

scientific article

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

scientific article

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

scientific article published on 31 October 2015

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

scientific article

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer

scientific article published on 31 October 2018

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

scientific article (publication date: March 2005)

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

scientific article published on 28 October 2020

Severe prognosis in a large family with hypokalemic periodic paralysis.

scientific article published in February 2003

Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease

scientific article published on 08 February 2019

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

scientific article published on 11 August 2020

Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.

scientific article

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

scientific article

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

scientific article

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

scientific article published on 24 October 2012

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

scientific article published on 02 October 2020

The enigmatic role of tafazzin in cardiolipin metabolism

scientific article

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

scientific article

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

scientific article published on 3 June 2017

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening

scientific article published on 01 August 2002

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

scientific article published on 18 June 2008

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

scientific article published on 8 February 2016

[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]

scientific article published on 01 November 2015

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

scientific article published on 01 January 2000

List of works by Amelia Morrone

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

A diagnosis of Fabry gastrointestinal disease by chance: a case report

A genetic modifier of symptom onset in Pompe disease

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

Asymptomatic dystrophinopathy

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

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

Brush border intestinal enzymes after multiple daily fractionation

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties

Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials.

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Cornea verticillata and Fabry disease

Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

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

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

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

Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

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.

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

GALNS gene expression profiling in Morquio A patients' fibroblasts.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

Galactosialidosis: review and analysis of CTSA gene mutations

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease.

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?

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

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

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

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database

Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

New clinical and molecular insights on Barth syndrome

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

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

Severe prognosis in a large family with hypokalemic periodic paralysis.

Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease

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

Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

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

The enigmatic role of tafazzin in cardiolipin metabolism

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement