Eugenia Roza
Biographic Data
| ID | 8253434 |
|---|---|
| NAME | Eugenia Roza |
| GIVEN NAMES | Eugenia |
| FAMILY NAME | Roza |
| SIGNATURE | ROZA E |
| AFFILIATIONS | Carol Davila University of Medicine and Pharmacy |
| ORCID | 0000-0002-5061-7821 |
| VERIFIED | Yes |
| TOTAL WORKS | 2 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 2 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2023 |
| LATEST PUBLICATION YEAR | 2023 |
| H-INDEX | 0 |
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal se…
The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy
Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult healthcare has been acknowledged for over a decade, yet it continues to be a last-minute concern. Currently, there is no established consensus on how to evaluate the effectiveness of the transition pr…
No prominent works on this page.
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal se…
The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy
Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase in the life expectancy of patients. The challenge of transitioning from pediatric to adult healthcare has been acknowledged for over a decade, yet it continues to be a last-minute concern. Currently, there is no established consensus on how to evaluate the effectiveness of the transition pr…
Internal Medicine (2 works) · Medicine (2 works) · Pediatrics (2 works) · Adolescent and Pediatric Healthcare (1 work) · Adult care (1 work) · Bioinformatics (1 work) · Biology (1 work) · Calcium (1 work) · Calcium metabolism (1 work) · Calcium-sensing receptor (1 work)