Cargando…

MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)

Familial hypocalciuric hypercalcemia (FHH) is a disorder of calcium homeostasis comprising three reported genetic variants: FHH types 1 and 2 are due to germline loss-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein subunit α-11 (Gα(11)), respectively, whereas, FHH type 3 (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hannan, Fadil, Stokes, Victoria, Gorvin, Caroline, Hough, Tertius, Codner, Gemma, Stewart, Michelle, Wells, Sara, Teboul, Lydia, Thakker, Rajesh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Bone and Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550860/ http://dx.doi.org/10.1210/js.2019-MON-539

Ejemplares similares

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Hannan, Fadil M, et al.
Publicado: (2020)

OR30-5 Germline Ablation of G-Protein Subunit Alpha-11 in Mice Causes Hypercalcemia That Is Rectified by Treatment with Cinacalcet
por: Hannan, Fadil, et al.
Publicado: (2019)

MON-532 Urinary Calcium Indices in Primary Hyperparathyroidism (PHPT) and Familial Hypocalciuric Hypercalcaemia (FHH): Is There a Need for Better Discrimination?
por: Arshad, Muhammad Fahad, et al.
Publicado: (2019)

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020)

MON-540 Familial Hypocalciuric Hypercalcemia Diagnosed in a 63-Year-Old Female
por: Mudgal, Mayuri, et al.
Publicado: (2019)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017)

SAT-504 Role of Genetic Screening for FHH in a Patient with Hypercalcemia and Hyperparathyroidism
por: Caldwell, Laura, et al.
Publicado: (2019)

A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
por: Gorvin, Caroline M, et al.
Publicado: (2016)

Atypical Presentation of Familial Hypocalciuric Hypercalcemia: Case Report
por: Ali, Dalal S, et al.
Publicado: (2021)

SUN-LB088 Octreotide Induced Hypocalcemia in Case of Familial Hypocalciuric Hypercalcemia
por: Alkhazaali, Ali, et al.
Publicado: (2019)

SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation
por: Kerut, Sarah Elizabeth, et al.
Publicado: (2020)

ODP128 Unusually High Serum Calcium in a Patient with Familial Hypocalciuric Hypercalcemia
por: Spiro, Andrew J, et al.
Publicado: (2022)

MON-358 Hypercalcemia During Teriparatide Therapy
por: Milosavljevic, Jovan, et al.
Publicado: (2020)

Type 1 Familial Hypocalciuric Hypercalcemia Caused by p.M74L Variant in the Calcium Sensing Receptor (CASR) Gene
por: Antony, McAnto, et al.
Publicado: (2021)

Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation
por: Elsheikh, Sahar A, et al.
Publicado: (2021)

SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia
por: Bushman, Jordan, et al.
Publicado: (2020)

MON-340 Isolated Extrapulmonary Sarcoidosis Presenting as Symptomatic Hypercalcemia
por: Swami, Janya
Publicado: (2020)

MON-343 The Mystery of Recurrent PTH-Independent Hypercalcemia with Severe Hypophosphatemia
por: Shaikh, Bilal, et al.
Publicado: (2020)

SAT-340 Familial Hypocalciuric Hypercalcemia Due to a C.571G>A (p.Glu191Lys) Variant in the GNA11 Gene
por: Jeng, Henry Shiheng, et al.
Publicado: (2020)

SAT-506 Identification of a Mutation in AP2S1 Causing Familial Hypocalciuric Hypercalcemia Type 3 in a Patient with Unknown Family History of the Disease
por: Bhanot, Monica, et al.
Publicado: (2019)

MON-335 Bisphosphonate and Denosumab Refractory Hypercalcemia of Malignancy: What Else Is at Play?
por: Patel, Reshma, et al.
Publicado: (2020)

MON-345 Hypercalcemia After Placement of Antibiotic-Loaded Calcium Sulfate Beads
por: Lane, Kyrstin, et al.
Publicado: (2020)

MON-369 Calcium Gone Crazy: Recurrent Hypercalcemia in Patient with History of Hypoparathyroidism
por: Tarar, Omer H, et al.
Publicado: (2020)

MON-LB69 Calcitriol-Mediated Hypercalcemia in a Patient With Metastatic Gastrointestinal Stromal Tumor
por: Betlachin, Anna, et al.
Publicado: (2020)

SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant
por: Bandaru, Sindhura, et al.
Publicado: (2020)

MON-334 Severe Hypercalcemia Following Hip Joint Implantation of Stimulan® Calcium Sulfate Antibiotic Beads
por: Motevalli, Mahsa, et al.
Publicado: (2020)

MON-LB64 Primary Hyperparathyroidism With Severe Hypercalcemia During Pregnancy: A Challenging Diagnosis and Management
por: George, Gemy M, et al.
Publicado: (2020)

MON-258 Toddler with Hypercalcemia: Diagnosis of Familial Hypocalciuric Hypercalcemia
por: Kochanski, Justin, et al.
Publicado: (2019)

MON-374 Management of 1,25-dihydroxyvitamin D (1,25-OHD) Mediated Hypercalcemia of Unknown Etiology
por: Menon, Sruthi, et al.
Publicado: (2020)

Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
por: Höppner, Jakob, et al.
Publicado: (2022)

MON-LB66 Altered Mental Status and Hypercalcemia: A Rare Presentation of Pure Osteolytic Metastatic Prostate Cancer
por: Kulkarni, Ajinkya, et al.
Publicado: (2020)

MON-367 Unusual Presentation of Hypercalcemia Preceding the Diagnosis of Methotrexate-Induced Pneumocystis Jirovecii Pneumonia from Treatment of Necrotizing Myopathy
por: Nguyen, Minhthao, et al.
Publicado: (2020)

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
por: Dershem, Ridge, et al.
Publicado: (2020)

MON-357 Craniofacial Deformities with Hypercalcemia: A Rare Case of Co-Existing Primary Hyperparathyroidism and Paget’s Disease of the Bone Since Young Adulthood
por: Nagaratnam, Shamharini, et al.
Publicado: (2020)

SUN-539 Low Dietary Calcium Intake Among Adolescents and Young Adults in Brasilia, Brazil
por: Sandoval, Letícia, et al.
Publicado: (2019)

SAT-539 The Utility of Prophylactic Zoledronic Acid in Patients Undergoing Lung Transplantation: A Retrospective Analysis
por: Ng, Elisabeth, et al.
Publicado: (2019)

LBODP022 A Rare Case Of Hypercalcemia: Mycobacterium Avium Complex Induced Hypercalcemia
por: Aluko, Oluwatomisin A, et al.
Publicado: (2022)

Silicone Induced Severe Hypercalcemia
por: K Jayathilaka, Dhammi K, et al.
Publicado: (2021)

LBODP021 Multifactorial Hypercalcemia
por: Ramachandran, Aishwarya, et al.
Publicado: (2022)

ODP093 Hunt for Hypercalcemia
por: Wang, Ally W, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_it6vobnd30ad4f407dt8phodmb