Rossella Ferrante
Biographic Data
| ID | 7931388 |
|---|---|
| NAME | Rossella Ferrante |
| GIVEN NAMES | Rossella |
| FAMILY NAME | Ferrante |
| SIGNATURE | FERRANTE R |
| AFFILIATIONS | University of Chieti-Pescara |
| ORCID | 0009-0001-9416-2523 |
| VERIFIED | Yes |
| TOTAL WORKS | 3 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 3 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated
Background: Gaucher disease (GD) is an autosomal recessive lysosomal disease. Extended neonatal screening currently includes GD in several different regions. Decision on when to start enzyme replacement therapy (ERT) upon confirmed diagnosis or upon appearance of first clinical manifestation of the disease remains an unmet need. Methods: We report our preliminary experience in tightly monitoring blood levels of glucosyl-sphingosine (lyso-Gb1), on…
A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency
Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes invol…
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS…
No prominent works on this page.
A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency
Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes invol…
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS…
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated
Background: Gaucher disease (GD) is an autosomal recessive lysosomal disease. Extended neonatal screening currently includes GD in several different regions. Decision on when to start enzyme replacement therapy (ERT) upon confirmed diagnosis or upon appearance of first clinical manifestation of the disease remains an unmet need. Methods: We report our preliminary experience in tightly monitoring blood levels of glucosyl-sphingosine (lyso-Gb1), on…
Biology (3 works) · Gene (2 works) · Genetics (2 works) · Medicine (2 works) · Pediatrics (2 works) · Advanced biosensing and bioanalysis techniques (1 work) · Biochemistry (1 work) · Biomarker (1 work) · Biotin (1 work) · Biotin and Related Studies (1 work)