Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 26 Aug 2024

Zanchelli Fulvia, Giudicissi Antonio, Neri L, Sgarlato V, Bruno P F, Ruggeri M, Signorotti S, Apuzzo D, Notaro E, Buscaroli A

Abstract excerpt

Familial Hypocalciuria Hypercalcemia (FHH) is an inherited disease with autosomal dominant transmission characterized by the presence of usually mild-to-moderate hypercalcemia, hypophosphatemia, hypocalciuria, and normal or moderately increased PTH values. Generally, FFH is asymptomatic although symptoms related to elevated plasma calcium values such as asthenia, intense thirst, polyuria, polydipsia or...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hypercalcemia
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 39243411
DOI: 10.69097/41-04-2024-06

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].PMID 39243411Read ↗

[Familial hypocalciuric hypercalcemia: a new mutation].Semantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia: The Challenge of DiagnosisSemantic proximity Read ↗

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.Semantic proximity Read ↗

[Familial hypercalcemia and hypophosphatemia: importance in differential diagnosis of disorders in calcium-phosphate metabolism].Semantic proximity Read ↗

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.Semantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.Semantic proximity Read ↗

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.Semantic proximity Read ↗

Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutationSemantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.Semantic proximity Read ↗

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.