Lista de obras - Rita Barone - Dominio Público Uruguay

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

scientific journal article

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

scientific article published on 16 September 2019

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

artículo científico publicado en 2021

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study

scientific article published on 14 August 2019

An unknown cause of aortic valve stenosis: polycythemia vera.

artículo científico publicado en 2013

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

scientific article published on 22 August 2020

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder

artículo científico publicado en 2015

Callosal anomalies with interhemispheric cyst: expanding the phenotype

artículo científico publicado en 2005

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

artículo científico publicado en 1994

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

artículo científico publicado en 2000

Chitotriosidase activity in colostrum from African and Caucasian women

artículo científico publicado en 2005

Chitotriosidase and Alzheimers Disease

artículo científico publicado en 2007

Chitotriosidase in Patients with Acute Ischemic Stroke

artículo científico publicado en 2005

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

artículo científico publicado en 2021

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Congenital disorders of glycosylation with emphasis on cerebellar involvement

artículo científico

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 1999

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

artículo científico publicado en 2003

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 1996

Extraneurologic symptoms as presenting signs of Sanfilippo disease.

artículo científico publicado en 2001

Extraordinary bone involvement in a Gaucher disease type I patient

artículo científico publicado en 2000

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

artículo científico publicado en 2011

Glycomics of pediatric and adulthood diseases of the central nervous system

artículo científico

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I

artículo científico publicado en 2000

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

artículo científico publicado en 2004

Hyperkinetic movement disorders in congenital disorders of glycosylation

artículo científico publicado en 2019

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

artículo científico publicado en 2005

Imaging findings of mucopolysaccharidoses: a pictorial review

artículo científico publicado en 2013

Incidence of Autism Spectrum Disorder in Youths Affected by Gilles de la Tourette Syndrome Based on Data from a Large Single Italian Clinical Cohort

artículo científico publicado en 2020

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

artículo científico publicado el 1 de abril de 1995

Intrathecal chitotriosidase and the outcome of multiple sclerosis

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 1998

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

artículo científico publicado en 2017

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

scientific article published on May 2009

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease

Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder

artículo científico publicado en 2021

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

artículo científico publicado en 2008

Mucopolysaccharidosis VI: the Italian experience

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 1996

Online comprehension across different semantic categories in preschool children with autism spectrum disorder

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Pancreatitis and organic acidemias

artículo científico publicado en 1995

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

artículo científico publicado en 1999

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

artículo científico publicado en 2012

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

artículo científico publicado en 1997

Plasma Chitotriosidase Activity Is a Marker of Recovery in Transplanted Patients Affected by β-Thalassemia major

artículo científico publicado en 2001

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

artículo científico publicado en 1999

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

artículo científico publicado en 2003

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

artículo científico publicado en 2003

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

artículo científico publicado en 2001

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

artículo científico publicado en 1999

Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children

scientific article published on 27 August 2020

Secondary disorders of glycosylation in inborn errors of fructose metabolism

artículo científico publicado en 2009

Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center

artículo científico publicado en 2020

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

article published in 2011

Startle epilepsy complicating aspartylglucosaminuria.

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

scientific article published on 01 June 1997

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

article

Lista de obras de Rita Barone

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.

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

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

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

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study

An unknown cause of aortic valve stenosis: polycythemia vera.

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

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

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

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

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder

Callosal anomalies with interhemispheric cyst: expanding the phenotype

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

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

Chitotriosidase activity in colostrum from African and Caucasian women

Chitotriosidase and Alzheimers Disease

Chitotriosidase in Patients with Acute Ischemic Stroke

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting

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

Congenital disorders of glycosylation with emphasis on cerebellar involvement

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

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

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

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

Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

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

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

Extraneurologic symptoms as presenting signs of Sanfilippo disease.

Extraordinary bone involvement in a Gaucher disease type I patient

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

Glycomics of pediatric and adulthood diseases of the central nervous system

Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type I

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

Hyperkinetic movement disorders in congenital disorders of glycosylation

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

Imaging findings of mucopolysaccharidoses: a pictorial review

Incidence of Autism Spectrum Disorder in Youths Affected by Gilles de la Tourette Syndrome Based on Data from a Large Single Italian Clinical Cohort

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

Intrathecal chitotriosidase and the outcome of multiple sclerosis

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

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

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

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

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease

Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder

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

Mucopolysaccharidosis VI: the Italian experience

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

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

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

Online comprehension across different semantic categories in preschool children with autism spectrum disorder

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

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

Pancreatitis and organic acidemias

Peripheral lymphocyte subsets and other immune aspects in Rett syndrome.

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

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

Plasma Chitotriosidase Activity Is a Marker of Recovery in Transplanted Patients Affected by β-Thalassemia major

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

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

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children

Secondary disorders of glycosylation in inborn errors of fructose metabolism

Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

Startle epilepsy complicating aspartylglucosaminuria.

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

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

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

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