Search Results - "Dinoi, E."
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1
Familial states of primary hyperparathyroidism: an update
Published in Journal of endocrinological investigation (2024)“…Background Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT…”
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2
When to suspect infantile hypercalcemia-1?
Published in Journal of endocrinological investigation (01-09-2024)“…Purpose The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D 3 /24,25(OH) 2 D 3 ratio at mass spectroscopy (MS). When the…”
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Journal Article -
3
Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome
Published in Journal of endocrinological investigation (01-02-2024)“…Purpose Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by…”
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Journal Article