Results 101 to 110 of about 2,981 (206)

A sporadic case of pseudohypoparathyroidism type Ib

, 2016
IntroductionPseudohypoparathyroidism is a genetically heterogeneous condition characterized by hypocalcemia and hyperphosphatemia resulting from end-organ resistance to parathyroid hormone (PTH).
Dias, Patrícia, Sampaio, Maria de Lurdes, Sousa, Ana Berta, Morgado, Joana   +3 more
core   +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

Clinical aspects of pseudohypoparathyroidism with late diagnosis

Introduction: Pseudohypoparathyroidism (PHP) is a rare, heterogeneous condition with metabolic and genetic disorders characterized by resistance of target organs to the action of PTH.
Silva, Silvania Brunelly Lima da
core   +1 more source

Variable phenotype of pseudohypoparathyroidism in children

, 2017
Background. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders associated with tissue insensitivity to parathyroid hormone. PHP is characterized by genetic heterogeneity and variable phenotype.
Natalia Yu. Kalinchenko, Elizaveta M. Orlova, Maria A. Melikyan, Elena V. Tozliyan, Maria A. Kareva, Valentina A. Peterkova, Nadezhda V. Makazan   +6 more
core   +1 more source

Pseudohypoparathyroidism: a case from medical practice

, 2012
У статті описано рідкісний клінічний випадок псевдогіпопаратиреозу, обумовлений вродженою нечутливістю клітин-мішеней до дії паратгормону.В статье описан редкий клинический случай псевдогипопаратиреоза, обусловленный врождённой нечувствительностью клеток-
Dembitska, L.A., Ляшук, Руслана Петрівна, Liashuk, P.M., Ляшук, П.М., Пашковская, Н.В., Pashkovska, N.V., Ляшук, Р.П., Liashuk, R.P., Ляшук, Петро Мефодійович, Дембіцька, Л.І., Дембицкая, Л.И., Пашковська, Наталія Вікторівна   +11 more
core  

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  

Sodium thiosulfate as a potential treatment for osteoma cutis in Albright hereditary osteodystrophy: A case report. [PDF]

JAAD Case Rep
Mercante MG, Yee PA, Lanyi S, Zlotoff BJ.   +3 more
europepmc   +1 more source

Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations. [PDF]

Medicine (Baltimore)
Choi HS, Kim HK, Suh SH, Kim CS, Ma SK, Kim SW, Bae EH.   +6 more
europepmc   +1 more source

A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties. [PDF]

Cureus
Yunas HA, Ismail A, Chowdhury EA, Riaz R, Hussain M, Amjad SS, Acharya J.   +6 more
europepmc   +1 more source

Pseudohypoparathyroidism in Infancy [PDF]

Archives of Disease in Childhood, 1960
openaire   +2 more sources