Cristina Ilies
Biographic Data
| ID | 8266722 |
|---|---|
| NAME | Cristina Ilies |
| GIVEN NAMES | Cristina |
| FAMILY NAME | Ilies |
| SIGNATURE | ILIES C |
| AFFILIATIONS | Victor Babeș University of Medicine and Pharmacy Timișoara |
| ORCID | 0000-0003-4440-5133 |
| VERIFIED | Yes |
| 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 |
Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated l…
No prominent works on this page.
Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated l…
Biology (1 work) · Calcitriol receptor (1 work) · Calcium (1 work) · CYP24A1 (1 work) · Endocrinology (1 work) · Gene (1 work) · Genetic heterogeneity (1 work) · Genetics (1 work) · Hypercalciuria (1 work) · Internal Medicine (1 work)