Results 61 to 70 of about 2,322 (168)

Gαs defines the fundamental coupling mechanism of insulin secretion

Journal of Diabetes Investigation, Volume 17, Issue 1, Page 9-11, January 2026.
Jun Shirakawa
wiley   +1 more source

Albright hereditary osteodystrophy: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2009
Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism).
Goswami M, Verma M, Singh A, Grewal H, Kumar G   +4 more
doaj  

Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications

Archives of Endocrinology and Metabolism, 2016
Objectives To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.
Maicon Piana Lopes, Breno S. Kliemann, Ileana Borsato Bini, Rodrigo Kulchetscki, Victor Borsani, Larissa Savi, Victoria Z. C. Borba, Carolina A. Moreira   +7 more
doaj   +1 more source

Management of pseudohypoparathyroidism

Current Opinion in Pediatrics, 2019
Purpose of review This review is timely given the 2018 publication of the first international Consensus Statement for the diagnosis and management of pseudohypoparathyroidism (PHP) and related disorders. The purpose of this review is to provide the knowledge needed to recognize and manage PHP1A, pseudopseudohypoparathyroidism ...
openaire   +3 more sources

A case of pseudohypoparathyroidism.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1971
No Abstract.
Epstein, S., Sagel, J., Jackson, W.P.U.
openaire   +2 more sources

Pseudopseudohypoparathyroidism: an unusual case

Journal of Clinical and Scientific Research, 2018
We report unusual case of a 22-year-old male patient who presented with phenotypic features of Albright's hereditary osteodystrophy, but had associated multiple hormonal deficiencies suggestive of pseudo-pseudohypararthyroidism.
Srinivasa P Munigoti
doaj   +1 more source

A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report

Open Life Sciences
Pseudohypoparathyroidism (PHP) type 1a (PHP 1a) is a rare hereditary disorder characterized by target organ resistance to hormonal signaling and the Albright hereditary osteodystrophy (AHO) phenotype, which features round facial features, short fingers ...
Wan Jinxing, He Dongjuan, Xie Jun, Chen Zhizhi   +3 more
doaj   +1 more source

Turner Syndrome with Pseudohypoparathyroidism: A Case Report

Journal of the ASEAN Federation of Endocrine Societies, 2016
The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each ...
Mohd Razi Syed, Abhinav Gupta, Deepak Gupta, Manish Gutch, Keshav Gupta   +4 more
doaj  

Albright’s Hereditary Osteodystrophy: A Rare Genetic Disorder Diagnosed on Standard Radiography

Journal of the Belgian Society of Radiology
Teaching point: Some genetic syndromes have characteristic features that allow for their diagnosis to be made based on radiological findings.
Catherine Dessard, Jacques Malghem, Lokmane Taihi   +2 more
doaj   +1 more source

Identification of novel pathogenic variants in the GNAS gene in children with morbid obesity and pseudohypoparathyroidism

Ожирение и метаболизм
Pseudohypoparathyroidism (PHP) is a clinically heterogeneous group of rare inherited bone diseases characterized by resistance of target organs to the action of parathormone (PTH) as result of an epi/genetic disorder.This article describes patients with ...
D. A. Kopytina, O. V. Vasyukova, R. R. Salakhov, P. L. Okorokov, E. V. Kopytina, E. V. Nagaeva, R. I. Khusainova, I. R. Minniakhmetov, S. V. Popov, O. B. Bezlepkina, N. G. Mokrysheva   +10 more
doaj   +1 more source