Diana Anamaria Epure
Biographic Data
| ID | 10437649 |
|---|---|
| NAME | Diana Anamaria Epure |
| GIVEN NAMES | Diana Anamaria |
| FAMILY NAME | Epure |
| SIGNATURE | EPURE D A |
| AFFILIATIONS | Pediatric Neurology Department—“Dr. Victor Gomoiu” Children’s Hospital, 022102 Bucharest, Romania |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| 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…
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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…
Bioinformatics (1 work) · Biology (1 work) · Calcium (1 work) · Calcium metabolism (1 work) · Calcium-sensing receptor (1 work) · Differential diagnosis (1 work) · Endocrinology (1 work) · Gene (1 work) · Genetic Syndromes and Imprinting (1 work) · Genetics (1 work)