Results 81 to 90 of about 2,981 (206)

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

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

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

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

Pseudohypoparathyroidism : Case report

, 2004
The parathyroid hormone plays a major role in the metabolism of calcium and phosphorus. In hypoparathyroidism the parathyroid glands are atrophied or absent associated with autoantibodies against parathyroid tissue.
김성오, 이제호, 손흥규, 최형준   +3 more
core  

Pseudohypoparathyroidism and G s α-cAMP-linked disorders : Current view and open issues

, 2016
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (G s α), a key regulator of the cAMP signalling pathway, rather than of ...
A. Spada, F.M. Elli, G. Mantovani, Giovanna Mantovani, Francesca Marta Elli, Anna Spada   +5 more
core   +1 more source

A pseudohypoparathyroidism case report

, 2011
Introdução: O pseudohipoparatiroidismo engloba um grupo heterogéneo de doenças que se caracterizam por resistência dos órgãos alvo à acção da hormona paratiroideia. Caso clínico: Descreve-se o caso clínico de uma criança de nove anos, com história de
Vieira, H., Vieira, P.
core  

Management of pseudohypoparathyroidism in pregnancy: a rare entity

, 2019
Pseudohypoparathyroidism is a very rare genetic disorder and during pregnancy poses multiple challenges related to its monitoring and management. Authors present the case of a  30year old primigravida who was a diagnosed case of pseudohypoparathyroidism ...
Ara, Anjum, Chug, Indu C., Hansadah, Saunri, Goyal, Avani, Sinha, Mrinalini   +4 more
core   +1 more source

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Jie Liu, Lijuan Lu, Yu Wei, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, the First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence: Guoxi ...
Lu L, Liu J, Li Y, Yu L, Jin G, Wang Q, Pei X, Zhuang L, Wei Y   +8 more
core  

Primary palpebral and orbital ossification in pseudo-pseudohypoparathyroidism

, 2002
ophthalmology, Albright's heriditary osteodystrophy, ossification, pseudo-pseudohypoparathyroidism, pseodohypoparathyroidism, hypothyroidism, GNAS1 gene, history, eyelid ...
Klauber, S., Prause, J.U., Heegaard, S.
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