Results 31 to 40 of about 20,169 (142)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

open access: yes, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima   +18 more
core  

Normocalcaemic hypoparathyroidism: prevalence and effect on bone status in older women. The OPUS study. [PDF]

open access: yes, 2015
There are no consistent data on the prevalence and bone status of normocalcaemic hypoparathyroidism (NHYPO) as defined by normal adjusted calcium and low PTH level.
Bilezikian   +35 more
core   +1 more source

Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene [PDF]

open access: yes, 2011
A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene.
Lam, CW, Tong, CT, Tong, SF, Wong, WC
core  

Total thyroidectomy versus hemithyroidectomy for patients with follicular neoplasm. A cost-utility analysis [PDF]

open access: yes, 2014
IntroductionThyroid nodules are a common condition. Overall, 20% of the nodules assessed with FNAB correspond to the follicular pattern. A partial thyroidectomy is the minimal procedure that should be performed to determine the nature of these nodules ...
Corso, C.   +5 more
core   +1 more source

Serum thyroid hormone antibodies are frequent in patients with polyglandular autoimmune syndrome type 3, particularly in those who require thyroxine treatment [PDF]

open access: yes, 2017
Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison’s disease and hypoparathyroidism. We evaluated the prevalence and repertoire of
Benvenga, Salvatore   +8 more
core   +1 more source

Hypoparathyroidism and Pseudo-hypoparathyroidism [PDF]

open access: yesBMJ, 1954
S. H. Llewellyn Smith   +2 more
openaire   +3 more sources

Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes [PDF]

open access: yes, 2014
Extracellular calcium participates in several key physiological functions, such as control of blood coagulation, bone calcification or muscle contraction.
Bochud, M., Bonny, O.
core   +1 more source

Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady [PDF]

open access: yes, 2012
We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism.
Chow, Wing-sun   +7 more
core   +1 more source

Home - About - Disclaimer - Privacy