Cargando…

Neonatal severe hyperparathyroidism due to a homozygous mutation of calcium-sensing receptor; a challenging case

Detalles Bibliográficos
Autores principales:	Hashim, Raihana, Levine, Michael A, Somasundarum, Kala, Lamahewage, Ananda, Atapattu, Navoda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7262957/ https://www.ncbi.nlm.nih.gov/pubmed/32120468 http://dx.doi.org/10.4038/cmj.v64i4.8988

Ejemplares similares

Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review
por: Sun, Xiaomei, et al.
Publicado: (2018)

Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism
por: Russell, Peyton, et al.
Publicado: (2023)

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene
por: Çömlek, Fatma Özgüç, et al.
Publicado: (2022)

Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
por: Jayasinghe, Kushani, et al.
Publicado: (2019)

The Role of the Calcium-Sensing Receptor in the Pathophysiology of Secondary Hyperparathyroidism
por: Riccardi, Daniela, et al.
Publicado: (2008)

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
por: Kiff, Sarah, et al.
Publicado: (2019)

Autoinflammation due to homozygous S208 MEFV mutation
por: Hong, Ying, et al.
Publicado: (2019)

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management
por: Gupta, Priyanka, et al.
Publicado: (2022)

Primary and secondary hyperparathyroidism present different expressions of calcium-sensing receptor
por: Li, Xin, et al.
Publicado: (2023)

SUN-366 Neonatal Severe Hyperparathyroidism: Extreme Hypercalcemia as a Robust Marker for Homozygous Dosage of Pathogenic CASR Variants
por: Marx, Stephen J, et al.
Publicado: (2020)

Vitamin D deficiency rickets – tip of the ice burg
por: Atapattu, Navoda, et al.
Publicado: (2015)

A Case Report of Calcium-Sensing Receptor Gene Variant and Primary Hyperparathyroidism
por: Joad, Sabaa Salim, et al.
Publicado: (2021)

A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia
por: Li, Nan, et al.
Publicado: (2021)

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour
por: Atapattu, N, et al.
Publicado: (2014)

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
por: Evliyaoğlu, Olcay, et al.
Publicado: (2018)

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
por: Capozza, Manuela, et al.
Publicado: (2018)

SAT-353 Familial Hyperparathyroidism - Due to a Rare Genetic Mutation
por: Taiwo, Adeyinka, et al.
Publicado: (2020)

Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
por: Capozza, Manuela, et al.
Publicado: (2019)

Hyperparathyroid Crisis: It's not All About Calcium!
por: Patro, Abinash, et al.
Publicado: (2017)

Normocalcaemic hyperparathyroidism and primary hyperparathyroidism: least significant change for adjusted serum calcium
por: Schini, Marian, et al.
Publicado: (2020)

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism
por: Yamashita, Sumie, et al.
Publicado: (2019)

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
por: Merlini, Luciano, et al.
Publicado: (2019)

Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?
por: Khan, Edmat Akhtar, et al.
Publicado: (2021)

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
por: Recio, Maria J., et al.
Publicado: (2019)

SAT-077 Two Cases of Hypoparathyroidism Due to Activating Calcium Sensing Receptor Mutation
por: Badran, Ahmed, et al.
Publicado: (2020)

Recurrent renal hyperparathyroidism due to parathyromatosis
por: Vulpio, Carlo, et al.
Publicado: (2011)

Myocardial Calcification due to Uncontrolled Hyperparathyroidism
por: Seo, Kyoung-Woo, et al.
Publicado: (2018)

Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
por: Aubert-Mucca, Marion, et al.
Publicado: (2021)

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene
por: Grünert, Sarah Catharina, et al.
Publicado: (2011)

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
por: Mooij, Christiaan F., et al.
Publicado: (2021)

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
por: Yuen, Michaela, et al.
Publicado: (2022)

Hyperparathyroidism in dentistry: Issues and challenges!!
por: Khalekar, Yogita, et al.
Publicado: (2016)

Single‐cell functional analysis of parathyroid adenomas reveals distinct classes of calcium sensing behaviour in primary hyperparathyroidism
por: Koh, James, et al.
Publicado: (2015)

Decreased expression of calcium-sensing receptor and parafibromin in secondary hyperparathyroidism with an abnormal whole PTH/intact PTH ratio
por: Yamada, Shunsuke, et al.
Publicado: (2013)

Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients
por: Grzegorzewska, Alicja E., et al.
Publicado: (2016)

Severe neonatal hyperparathyroidism: a case report
por: Dissaneevate, Pathikan, et al.
Publicado: (2015)

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation
por: Hedberg-Oldfors, Carola, et al.
Publicado: (2020)

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
por: Zhu, Gaofeng, et al.
Publicado: (2023)

Cognitive decline due to ectopic primary hyperparathyroidism
por: Nishimura, Yoshito, et al.
Publicado: (2018)

Primary hyperparathyroidism due to mediastinal parathyroid lesions
por: Gawrychowski, Jacek, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_akkfu8ggu40b4bs7nn17f9sqd3