List of works - Rita Barone

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

scientific article published in September 1999

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

scientific article published on 21 July 2005

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

scientific article

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

scientific article

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

scientific article published on 5 April 2011

Substrate reduction therapy in the infantile form of Tay-Sachs disease

scientific article published in January 2006

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

scientific article

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

scientific article published on 01 July 1997

Congenital disorders of glycosylation with emphasis on cerebellar involvement

scientific article published on July 2014

Outcome of psychiatric symptoms presenting at onset of multiple sclerosis: a retrospective study

scientific article published on 29 March 2010

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

scientific article

Mucopolysaccharidosis VI: the Italian experience

scientific article published on 07 January 2009

Imaging findings of mucopolysaccharidoses: a pictorial review

scientific article published on 05 May 2013

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

scientific article published on 01 February 1999

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

scientific article published on 25 May 2011

Chitotriosidase in Patients with Acute Ischemic Stroke

scientific article published on 24 November 2005

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

scientific article

Mass spectrometry in the characterization of human genetic N-glycosylation defects

scientific article published on May 2009

Early miglustat therapy in infantile Niemann-Pick disease type C.

scientific article published in July 2012

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

scientific article

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

scientific article published on 01 August 1996

Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms

scientific article published on 13 February 2009

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

scientific article published on 01 June 1997

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder

scientific article published in August 1998

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

scientific article published in September 1999

Plasma chitotriosidase activity in β-thalassemia major: a comparative study between Sicilian and Sardinian patients

scientific article published on 01 April 2001

Glycomics of pediatric and adulthood diseases of the central nervous system

scientific article published on 16 July 2012

Intrathecal chitotriosidase and the outcome of multiple sclerosis

scientific article published on October 2006

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

scientific article published in March 2004

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

scientific article

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

scientific article published in October 1996

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

scientific article published on 01 March 2008

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

scientific article published on 01 April 1998

Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease

scientific article published on 01 January 2002

Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease)

scientific article published on 01 April 1995

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

scientific article published on June 1999

Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder

scientific article published on 16 April 2019

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

scientific article published on 01 August 2008

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

scientific article published on 01 June 2000

Callosal anomalies with interhemispheric cyst: expanding the phenotype

scientific article

β-Hexosaminidase, α-d-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

article

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

scientific article

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Chitotriosidase and Alzheimers Disease

scientific article published on 01 July 2007

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them

scientific article published in August 2005

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

scientific article published on 25 April 2017

Secondary disorders of glycosylation in inborn errors of fructose metabolism

scientific article

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

scientific article published in January 2003

List of works by Rita Barone

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Substrate reduction therapy in the infantile form of Tay-Sachs disease

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

Congenital disorders of glycosylation with emphasis on cerebellar involvement

Outcome of psychiatric symptoms presenting at onset of multiple sclerosis: a retrospective study

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

Mucopolysaccharidosis VI: the Italian experience

Imaging findings of mucopolysaccharidoses: a pictorial review

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

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

Chitotriosidase in Patients with Acute Ischemic Stroke

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Mass spectrometry in the characterization of human genetic N-glycosylation defects

Early miglustat therapy in infantile Niemann-Pick disease type C.

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Brief report: autistic behaviors among children with fragile X or Rett syndrome: implications for the classification of pervasive developmental disorder

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

Plasma chitotriosidase activity in β-thalassemia major: a comparative study between Sicilian and Sardinian patients

Glycomics of pediatric and adulthood diseases of the central nervous system

Intrathecal chitotriosidase and the outcome of multiple sclerosis

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

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

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease

Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease)

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

Callosal anomalies with interhemispheric cyst: expanding the phenotype

β-Hexosaminidase, α-d-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Chitotriosidase and Alzheimers Disease

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

Secondary disorders of glycosylation in inborn errors of fructose metabolism

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation