Francesca Romana Lepri
Biographic Data
| ID | 7931389 |
|---|---|
| NAME | Francesca Romana Lepri |
| GIVEN NAMES | Francesca Romana |
| FAMILY NAME | Lepri |
| SIGNATURE | LEPRI F R |
| AFFILIATIONS | Bambino Gesù Children's Hospital |
| ORCID | 0000-0001-5331-0473 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
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.
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…
Advanced biosensing and bioanalysis techniques (1 work) · Biology (1 work) · Biotin (1 work) · Biotin and Related Studies (1 work) · Biotinidase deficiency (1 work) · Click Chemistry and Applications (1 work) · Environmental health (1 work) · Gene (1 work) · Genetics (1 work) · Genotype (1 work)