All Stories

  1. Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights

    Article • Genes, August 2025, MDPI AG

    Rita Barone

  2. Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis

    Article • Children, June 2025, MDPI AG

    Rita Barone

  3. Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient

    Article • European Child & Adolescent Psychiatry, June 2025, Springer Science + Business Media

    Rita Barone

  4. POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report

    Article • Italian Journal of Pediatrics, June 2025, Springer Science + Business Media

    Rita Barone

  5. Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder

    Article • International Journal of Molecular Sciences, January 2025, MDPI AG

    Rita Barone

  6. Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

    Article • The FASEB Journal, July 2024, Wiley

    Rita Barone

  7. Correction: The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder

    Article • Journal of Autism and Developmental Disorders, March 2024, Springer Science + Business Media

    Rita Barone

  8. Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

    Article • Journal of Clinical Medicine, February 2024, MDPI AG

    Rita Barone

  9. Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

    Article • Orphanet Journal of Rare Diseases, February 2024, Springer Science + Business Media

    Rita Barone

  10. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

    Article • Human Mutation, January 2024, Wiley

    Rita Barone

  11. The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder

    Article • Journal of Autism and Developmental Disorders, December 2023, Springer Science + Business Media

    Rita Barone

  12. Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic

    Article • Healthcare, April 2023, MDPI AG

    Rita Barone

  13. Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation

    Article • European Journal of Medical Genetics, March 2023, Elsevier

    Rita Barone

  14. Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample

    Article • Children, February 2023, MDPI AG

    Rita Barone

  15. Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

    Article • Genes, February 2023, MDPI AG

    Rita Barone

  16. PARK2 microdeletion in a multiplex family with autism spectrum disorder

    Article • International Journal of Developmental Neuroscience, December 2022, Wiley

    Rita Barone

  17. Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues

    Article • Journal of Personalized Medicine, September 2022, MDPI AG

    Rita Barone

  18. Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2)

    Article • Journal of Clinical Medicine, March 2022, MDPI AG

    Rita Barone

  19. Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation

    Article • Cellular and Molecular Life Sciences, February 2022, Springer Science + Business Media

    Rita Barone, Dr Luca Galluzzi

  20. Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study

    Article • Nutrients, February 2022, MDPI AG

    Rita Barone

  21. COG6‐CDG : Novel variants and novel malformation

    Article • Birth Defects Research, January 2022, Wiley

    Rita Barone

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

    Article • The American Journal of Human Genetics, November 2021, Elsevier

    Rita Barone

  23. Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data

    Article • Frontiers in Pediatrics, October 2021, Frontiers

    Rita Barone

  24. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

    Article • Molecular Genetics and Metabolism, August 2021, Elsevier

    Rita Barone

  25. N-Glycomics of Human Erythrocytes

    Article • International Journal of Molecular Sciences, July 2021, MDPI AG

    Rita Barone

  26. Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

    Article • Frontiers in Neurology, July 2021, Frontiers

    Rita Barone

  27. Clinical, molecular and glycophenotype insights in SLC39A8-CDG

    Article • Orphanet Journal of Rare Diseases, July 2021, Springer Science + Business Media

    Rita Barone

  28. N-Glycomics of Human Erythrocytes

    Article • July 2021, MDPI AG

    Rita Barone

  29. Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (AIDA)

    Article • Identity, June 2021, Taylor & Francis

    Rita Barone

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

    Article • Journal of Personalized Medicine, June 2021, MDPI AG

    Rita Barone

  31. Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

    Article • iScience, April 2021, Elsevier

    Rita Barone

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

    Article • The Cerebellum, February 2021, Springer Science + Business Media

    Rita Barone

  33. A Novel Homozygous <b><i>ALG12</i></b> Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

    Article • Molecular Syndromology, January 2021, Karger Publishers

    Rita Barone

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

    Article • Brain Sciences, November 2020, MDPI AG

    Rita Barone

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

    Article • Journal of Clinical Medicine, October 2020, MDPI AG

    Rita Barone

  36. Epilepsy and movement disorders in CDG : Report on the oldest‐known MOGS‐CDG patient

    Article • American Journal of Medical Genetics Part A, October 2020, Wiley

    Rita Barone

  37. International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management

    Article • Journal of Inherited Metabolic Disease, September 2020, Wiley

    Rita Barone, Paula Videira

  38. HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases

    Article • Glycoconjugate Journal, September 2020, Springer Science + Business Media

    Rita Barone

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

    Article • International Journal of Molecular Sciences, August 2020, MDPI AG

    Rita Barone

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

    Article • Journal of Clinical Medicine, August 2020, MDPI AG

    Rita Barone, Professor Piero Pavone

  41. A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), August 2020, De Gruyter

    Rita Barone

  42. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

    Article • Genetics in Medicine, June 2020, Elsevier

    Rita Barone

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

    Article • Brain Sciences, May 2020, MDPI AG

    Rita Barone

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

    Article • International Journal of Developmental Neuroscience, March 2020, Wiley

    Rita Barone

  45. Aberrant Sialylation in a Patient with a <i>HNF1α</i> Variant and Liver Adenomatosis

    Article • SSRN Electronic Journal, January 2020, Elsevier

    Rita Barone

  46. Metal and essential element levels in hair and association with autism severity

    Article • Journal of Trace Elements in Medicine and Biology, January 2020, Elsevier

    Rita Barone

  47. ALG12-CDG: novel glycophenotype insights endorse the molecular defect

    Article • Glycoconjugate Journal, September 2019, Springer Science + Business Media

    Rita Barone

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

    Article • Brain Sciences, August 2019, MDPI AG

    Mariagiovanna Cantone, Rita Barone

  49. Diagnostic and Prognostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy

    Article • July 2019, MDPI AG

    Rita Barone

  50. Hyperkinetic movement disorders in congenital disorders of glycosylation

    Article • European Journal of Neurology, June 2019, Wiley

    Rita Barone

  51. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Article • Journal of Inherited Metabolic Disease, April 2019, Wiley

    Rita Barone, Paula Videira

  52. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    Article • Human Mutation, April 2019, Hindawi Publishing Corporation

    Rita Barone

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

    Article • International Journal of Molecular Sciences, April 2019, MDPI AG

    Rita Barone

  54. Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

    Article • European Journal of Pediatrics, February 2019, Springer Science + Business Media

    Rita Barone

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

    Article • PLOS One, February 2019, PLOS

    Rita Barone

  56. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

    Article • Journal of Inherited Metabolic Disease, February 2019, Wiley

    Rita Barone

  57. CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases

    Article • January 2019, Springer Science + Business Media

    Rita Barone

  58. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Article • Journal of Inherited Metabolic Disease, January 2019, Wiley

    Rita Barone, Paula Videira

  59. A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses

    Article • Frontiers in Psychiatry, December 2018, Frontiers

    Rita Barone

  60. Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses

    Article • Italian Journal of Pediatrics, November 2018, Springer Science + Business Media

    Rita Barone

  61. Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

    Article • International Journal of Neonatal Screening, April 2018, MDPI AG

    Rita Barone

  62. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

    Article • Orphanet Journal of Rare Diseases, April 2018, Springer Science + Business Media

    Rita Barone

  63. Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease

    Article • Hemoglobin, March 2018, Taylor & Francis

    Rita Barone

  64. CSF N-Glycomics Using MALDI MS Techniques in Alzheimer’s Disease

    Article • January 2018, Springer Science + Business Media

    Rita Barone

  65. Errata Corrige, Thalassemia Reports 2017; 7:6392

    Article • Thalassemia Reports, August 2017, MDPI AG

    Rita Barone

  66. Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder

    Article • Frontiers in Molecular Neuroscience, August 2017, Frontiers

    Rita Barone

  67. An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations

    Article • June 2017, Institute of Electrical & Electronics Engineers (IEEE)

    Rita Barone

  68. MALDI-MS profiling of serumO-glycosylation andN-glycosylation in COG5-CDG

    Article • Journal of Mass Spectrometry, May 2017, Wiley

    Rita Barone

  69. Granulocyte–Colony Stimulating Factor plus Plerixafor in Patients with β-thalassemia Major Results in the Effective Mobilization of Primitive CD34+ Cells with Specific Gene Expression Profile

    Article • Thalassemia Reports, May 2017, MDPI AG

    Rita Barone

  70. Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders

    Article • American Journal of Medical Genetics Part A, April 2017, Wiley

    Rita Barone, Renata Rizzo

  71. Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG)

    Article • Brain and Development, April 2017, Elsevier

    Rita Barone

  72. Prominent neurological involvement in Dercum disease

    Article • Deutsche Zeitschrift für Nervenheilkunde, February 2017, Springer Science + Business Media

    Dr. Giuseppe Lanza, Mariagiovanna Cantone, Rita Barone

  73. Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)

    Article • Journal of Clinical Neurology, January 2017, Korean Neurological Association (KAMJE)

    Dr. Giuseppe Lanza, Mariagiovanna Cantone, Rita Barone

  74. Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers

    Article • Indian Journal of Hematology and Blood Transfusion, December 2016, Springer Science + Business Media

    Rita Barone

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

    Article • Human Mutation, March 2016, Wiley

    Rita Barone

  76. New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia

    Article • Indian Journal of Hematology and Blood Transfusion, January 2016, Springer Science + Business Media

    Rita Barone

  77. CSF N-glycoproteomics for early diagnosis in Alzheimer's disease

    Article • Journal of Proteomics, January 2016, Elsevier

    Rita Barone

  78. Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness

    Article • European Journal of Neurology, December 2015, Wiley

    Rita Barone

  79. Congenital Dyserythropoietic Anemias: Molecular Diagnosis and Diagnostic Approach in a Cohort of Italian Patients

    Article • Blood, December 2015, American Society of Hematology

    Rita Barone

  80. Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease

    Article • Pediatric Neurology, October 2015, Elsevier

    Rita Barone

  81. Defective CSF sialylation in autism spectrum disorders

    Article • Autism Research, August 2015, Wiley

    Rita Barone, Renata Rizzo

  82. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

    Article • Human Mutation, March 2015, Wiley

    Rita Barone

  83. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

    Article • JIMD Reports, January 2015, Springer Science + Business Media

    Rita Barone

  84. Deferiprone versus Deferoxamine in Sickle Cell Disease: Results from a 5-year long-term Italian multi-center randomized clinical trial

    Article • Blood Cells Molecules and Diseases, December 2014, Elsevier

    Rita Barone

  85. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

    Article • Molecular Cytogenetics, December 2014, Springer Science + Business Media

    Rita Barone

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

    Article • Deutsche Zeitschrift für Nervenheilkunde, October 2014, Springer Science + Business Media

    Rita Barone

  87. Development and Recent Progresses of Gene Therapy for β-Thalassemia

    Article • Thalassemia Reports, September 2014, MDPI AG

    Rita Barone

  88. Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement

    Article • Seminars in Neurology, September 2014, Thieme Publishing Group

    Rita Barone

  89. Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Article • JIMD Reports, January 2014, Springer Science + Business Media

    Rita Barone

  90. First US Phase I Clinical Trial Of Globin Gene Transfer For The Treatment Of Beta-Thalassemia Major

    Article • Blood, November 2013, American Society of Hematology

    Rita Barone

  91. Long-term treatment with deferiprone enhances left ventricular ejection function when compared to deferoxamine in patients with thalassemia major

    Article • Blood Cells Molecules and Diseases, August 2013, Elsevier

    Rita Barone

  92. Imaging findings of mucopolysaccharidoses: a pictorial review

    Article • Insights into Imaging, May 2013, Springer Science + Business Media

    Rita Barone

  93. Serial echocardiographic left ventricular ejection fraction measurements: A tool for detecting thalassemia major patients at risk of cardiac death

    Article • Blood Cells Molecules and Diseases, April 2013, Elsevier

    Rita Barone

  94. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Article • European Journal of Human Genetics, February 2013, Springer Science + Business Media

    Andrea Poretti, Dr Francesco Benedicenti, Dr Corrado Romano, Gian Marco Ghiggeri, Rita Barone, Andre Megarbane

  95. Eye-tracking evaluation of ocular motility in Pompe disease

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Rita Barone

  96. Hurler disease (MPS IH): Evidence for the need of increased awareness by caring non-metabolic physicians

    Article • Molecular Genetics and Metabolism, February 2013, Elsevier

    Rita Barone

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

    Article • Annals of Neurology, October 2012, Wiley

    Rita Barone

  98. Glycomics of pediatric and adulthood diseases of the central nervous system

    Article • Journal of Proteomics, September 2012, Elsevier

    Rita Barone

  99. An unknown cause of aortic valve stenosis: polycythemia vera

    Article • Journal of Thrombosis and Thrombolysis, July 2012, Springer Science + Business Media

    Rita Barone

  100. Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C

    Article • Pediatric Neurology, July 2012, Elsevier

    Rita Barone

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

    Article • Acta Neurologica Belgica, February 2012, Springer Science + Business Media

    Dr. Giuseppe Lanza, Mariagiovanna Cantone, Rita Barone

  102. Erythrocyte deformability evaluated by laser diffractometry in polycythemia vera

    Article • Clinical Hemorheology and Microcirculation, January 2012, IOS Press

    Rita Barone

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

    Article • Clinical Genetics, May 2011, Wiley

    Rita Barone

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

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, May 2011, Taylor & Francis

    Rita Barone

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

    Article • Journal of Inherited Metabolic Disease, April 2011, Wiley

    Rita Barone

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

    Article • Journal of Inherited Metabolic Disease, March 2011, Wiley

    Rita Barone

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

    Article • Clinical Genetics, November 2010, Wiley

    Rita Barone

  108. Relapsing or refractory idiopathic thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: the role of rituximab

    Article • Transfusion, June 2010, Wiley

    Rita Barone

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

    Article • Multiple Sclerosis Journal, March 2010, SAGE Publications

    Rita Barone

  110. Secondary disorders of glycosylation in inborn errors of fructose metabolism

    Article • Journal of Inherited Metabolic Disease, September 2009, Wiley

    Rita Barone

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

    Article • Annals of Hematology, February 2009, Springer Science + Business Media

    Rita Barone

  112. Mucopolysaccharidosis VI: the Italian experience

    Article • European Journal of Pediatrics, January 2009, Springer Science + Business Media

    Rita Barone

  113. Mass spectrometry in the characterization of human genetic N‐glycosylation defects

    Article • Mass Spectrometry Reviews, October 2008, Wiley

    Rita Barone

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

    Article • PROTEOMICS, August 2008, Wiley

    Rita Barone

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

    Article • American Journal of Medical Genetics Part A, August 2008, Wiley

    Rita Barone

  116. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)

    Article • Clinical Genetics, April 2008, Wiley

    Rita Barone

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

    Article • Biotechnology and Applied Biochemistry, March 2008, Wiley

    Rita Barone

  118. Chitotriosidase and Alzheimers Disease

    Article • Current Alzheimer Research, July 2007, Bentham Science Publishers

    Rita Barone

  119. Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

    Article • Journal of Inherited Metabolic Disease, December 2006, Wiley

    Rita Barone

  120. Intrathecal chitotriosidase and the outcome of multiple sclerosis

    Article • Multiple Sclerosis Journal, September 2006, SAGE Publications

    Rita Barone

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

    Article • Neurology, January 2006, Wolters Kluwer Health

    Rita Barone

  122. Callosal anomalies with interhemispheric cyst: Expanding the phenotype

    Article • Acta Paediatrica, August 2005, Wiley

    Professor Piero Pavone, Rita Barone

  123. 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

    Article • Neuropediatrics, August 2005, Thieme Publishing Group

    Professor Piero Pavone, Rita Barone

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

    Article • Glycobiology, July 2005, Oxford University Press (OUP)

    Rita Barone

  125. Chitotriosidase activity in colostrum from African and Caucasian women

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2005, De Gruyter

    Rita Barone

  126. Chitotriosidase in Patients with Acute Ischemic Stroke

    Article • European Neurology, January 2005, Karger Publishers

    Rita Barone

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

    Article • Biochemical Journal, May 2004, Portland Press Ltd.

    Rita Barone

  128. Startle epilepsy complicating aspartylglucosaminuria

    Article • Brain and Development, March 2004, Elsevier

    Rita Barone

  129. A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood‐onset Cognitive Deficit

    Article • Epilepsia, February 2004, Wiley

    Rita Barone

  130. 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

    Article • Genes & Immunity, November 2003, Springer Science + Business Media

    Rita Barone

  131. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

    Article • Journal of Medical Genetics, August 2003, BMJ

    Rita Barone

  132. Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation

    Article • Journal of Inherited Metabolic Disease, June 2003, Wiley

    Rita Barone

  133. Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

    Article • Clinica Chimica Acta, May 2003, Elsevier

    Rita Barone

  134. Plasma chitotriosidase activity in patients with ?-thalassemia

    Article • American Journal of Hematology, March 2003, Wiley

    Rita Barone

  135. Plasma Chitotriosidase Activity in Acute Plasmodium falciparum Malaria

    Article • Journal of Tropical Pediatrics, February 2003, Oxford University Press (OUP)

    Rita Barone

  136. Mutation analysis of the MECP2 gene in patients with Rett syndrome

    Article • American Journal of Medical Genetics Part A, October 2002, Wiley

    Rita Barone

  137. White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI

    Article • Journal of the Neurological Sciences, March 2002, Elsevier

    Professor Piero Pavone, Rita Barone

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

    Article • Journal of Bone and Mineral Metabolism, January 2002, Springer Science + Business Media

    Rita Barone

  139. Extraneurologic symptoms as presenting signs of Sanfilippo disease

    Article • Pediatric Neurology, September 2001, Elsevier

    Rita Barone

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

    Article • Clinica Chimica Acta, April 2001, Elsevier

    Rita Barone

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

    Article • Acta Haematologica, January 2001, Karger Publishers

    Rita Barone

  142. Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

    Article • Neuropediatrics, December 2000, Thieme Publishing Group

    Professor Piero Pavone, Rita Barone

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

    Article • Clinica Chimica Acta, December 2000, Elsevier

    Rita Barone

  144. Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome

    Article • European Journal of Pediatrics, November 2000, Springer Science + Business Media

    Professor Piero Pavone, Rita Barone

  145. Carbohydrate-deficient glycoprotein syndromes: The Italian experience

    Article • Journal of Inherited Metabolic Disease, June 2000, Wiley

    Rita Barone

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

    Article • Journal of Inherited Metabolic Disease, June 2000, Wiley

    Rita Barone

  147. Extraordinary bone involvement in a Gaucher disease type I patient

    Article • British Journal of Haematology, March 2000, Wiley

    Rita Barone

  148. Clinical and Neuroradiological Follow-Up in Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

    Article • Neuropediatrics, October 1999, Thieme Publishing Group

    Rita Barone

  149. Peripheral lymphocyte subsets and other immune aspects in rett syndrome

    Article • Pediatric Neurology, September 1999, Elsevier

    Rita Barone

  150. Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

    Article • Human Molecular Genetics, September 1999, Oxford University Press (OUP)

    Rita Barone

  151. Rett Syndrome: Photographic Evidence of Rapid Regression

    Article • Journal of Child Neurology, August 1999, SAGE Publications

    Rita Barone

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

    Article • Brain and Development, June 1999, Elsevier

    Rita Barone

  153. Plasma Chitotriosidase Activity in Patients with β-Thalassemia

    Article • Blood Cells Molecules and Diseases, February 1999, Elsevier

    Rita Barone

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

    Article • Journal of Inherited Metabolic Disease, April 1998, Wiley

    Rita Barone

  155. Article • Journal of Autism and Developmental Disorders, January 1998, Springer Science + Business Media

    Rita Barone

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

    Article • Journal of Inherited Metabolic Disease, July 1997, Wiley

    Rita Barone

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

    Article • American Journal of Medical Genetics, June 1997, Wiley

    Daniel Grinberg, Rita Barone

  158. Carbohydrate deficient glycoprotein (CDG) syndrome type I.

    Article • Journal of Medical Genetics, January 1997, BMJ

    Rita Barone

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

    Article • Genomics, August 1996, Elsevier

    Rita Barone

  160. The effect of metformin on liver blood flow in vivo in normal subjects and patients with non insulin dependent diabetes

    Article • Diabetes Research and Clinical Practice, July 1996, Elsevier

    Rita Barone, Alberto Signore

  161. Familial Dandy-Walker variant in CDG syndrome

    Article • American Journal of Medical Genetics, May 1996, Wiley

    Rita Barone

  162. Haemostatic Studies in Carbohydrate-deficient Glycoprotein Syndrome Type I

    Article • Thrombosis and Haemostasis, January 1996, Thieme Publishing Group

    Rita Barone

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

    Article • Deutsche Zeitschrift für Nervenheilkunde, January 1996, Springer Science + Business Media

    Rita Barone

  164. Pancreatitis and organic acidemias

    Article • The Journal of Pediatrics, May 1995, Elsevier

    Rita Barone

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

    Article • British Journal of Ophthalmology, November 1994, BMJ

    Rita Barone