Rossella Ferrante

Chieti, 66100, Italy

Last Updated: 09/26/2026

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Found 18 publications

Pycnodysostosis: Report of Two Novel CTSK Variants in a Child.

Pycnodysostosis: Report of Two Novel CTSK Variants in a Child.

Journal: Clinics and practice
Published: May 28, 2026

Hyperkinetic manifestations in sporadic parkinsonism: An exploratory case series with APOE and NOS3 variants.

Hyperkinetic manifestations in sporadic parkinsonism: An exploratory case series with APOE and NOS3 variants.

Journal: Clinical parkinsonism & related disorders
Published: March 23, 2026

Assessing the role of Subacute Encephalopathy with Seizures in Alcoholics (SESA) syndrome in the development of status epilepticus: a case report and systematic review with individual patients' analysis.

Assessing the role of Subacute Encephalopathy with Seizures in Alcoholics (SESA) syndrome in the development of status epilepticus: a case report and systematic review with individual patients' analysis.

Journal: BMC neurology
Published: August 31, 2025

Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration.

Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration.

Journal: Clinical biochemistry
Published: May 17, 2025

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.

Journal: Children (Basel, Switzerland)
Published: January 30, 2025

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

Journal: Clinical rheumatology
Published: July 24, 2024

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Journal: Biomedicines
Published: July 06, 2024

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.

Journal: Biomedicines
Published: August 30, 2023

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.

Journal: International journal of molecular sciences
Published: August 21, 2023

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.

Journal: Frontiers in genetics
Published: October 05, 2022

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Journal: Frontiers in genetics
Published: October 03, 2022

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.

Journal: International journal of environmental research and public health
Published: May 10, 2022
Showing 1-12 of 18

Last Updated: 09/26/2026