Results 91 to 100 of about 2,981 (206)

DENIAL CHARACTERISTICS OF PSEUDOHYPOPARATHYROIDISM : CASE REPORT

, 1999
Hypoparathyroidism has abnormally decreased secretion of parathyroid hormon which responds to the blood calcium level. Wherease, Pseudohypoparathyroidism has normal activity of thyroid hormon, but end-organs, such as urinary tract and osteoclast, do not ...
최병재
core  

New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase

, 1989
Patients with pseudohypoparathyroidism type Ia have resistance to multiple hormones because of deficient activity of the stimulatory guanine nucleotide-binding protein (Gs) that couples membrane receptors to activation of adenylate cyclase. However, in a
D. Barrett, N. A. Breslau, M. B. Wax, P. B. Molinoff, R. W. Downs   +4 more
core   +1 more source

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

, 2011
Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype.
Lin Han, Zhi-Min Miao, Qiao-Lian Wen, Chang-Gui Li, Zhi Cheng, Dong-Mei Meng, Qing Yu, Xu Ma, Bin-Bin Wang, Can Wang, Dong-Mei Su   +10 more
core   +1 more source

Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism

, 2020
Background Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown.
Chao Zhang, Mei Feng, Wei Yue, Xiangqin Zhou   +3 more
core   +1 more source

A study of computed tomography scan and magnetic resonance imaging findings in pseudohypoparathyroidism

Annals of Indian Academy of Neurology, 2010
We report three children with pseudohypoparathyroidism aged 13-16 years who presented with seizures and tetany. CT scan revealed striatopallidal calcification in two. MRI revealed wide-spread involvement showing T1 hyperintensity in striatopallidodentate
Kalita J, Kumar N, Maurya P, Misra U
doaj  

Pseudohypoparathyroidism Type 2: Case Report

, 2021
Psödohipoparatiroidi, parathormona karşı hedef organ düzeyinde cevapsızlık nedeniyle hipokalsemi ve hiperfosfatemi gelişmesiyle karakterize bir bozukluktur.
Güleç Şen, Özlem, Kaçar, Emre, Şen, Tolga Altuğ   +2 more
core  

Vitamin D Deficiency Mimicking Pseudohypoparathyroidism Type II in an Adolescent Boy: A Case Report

, 2022
Background: Vitamin D deficiency in children is common and usually characterized by hypocalcemia, hypophosphatemia, and elevated serum parathyroid hormone level.
Shieh, Andrew, Alvarez, Griselda
core  

GNAS1 mutational analysis in pseudohypoparathyroidism

, 1998
<b>OBJECTIVE:</b> Mutations of the GNAS1 gene, which is located on chromosome 20q13.11 and encodes the alpha-subunit of the stimulatory GTP-binding protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and ...
C. J. H. Kelnar, S. F. Ahmed, Stirling, HF, Stirling, H.F., Thakker, RV, Dixon, P.H., P. H. Dixon, D. T. Bonthron, R. V. Thakker, Ahmed, S.F., Bonthron, DT, Thakker, Rajesh, Kelnar, CJ, Thakker, R.V., H. F. Stirling, D. G. D. Barr, Barr, DG, Ahmed, SF, Bonthron, D.T., Barr, D.G.D., Kelnar, C.J.H., Dixon, PH   +21 more
core   +1 more source

Pseudohypoparathyroidism: case description and literature review.

Background: Pseudohypoparathyroidism is a rare endocrine disorder with a prevalence of about 1 case per 100,000 population. The most important feature of the disease is end-organ resistance to hormones, such as thyrotropin and gonadotropins, the most ...
Pivoriūnaitė, Viktorija,
core  

Pseudohypoparathyroidism in Children

, 2011
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of developmental and skeletal defects that may easily be misdiagnosed as exogenous obesity in children.
Nwosu, Benjamin U.
core