×
About 95 results

ALLMedicine™ Albright's Hereditary Osteodystrophy Center

Research & Reviews  38 results

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appe...
https://doi.org/10.1007/s12020-021-02821-y 10.1038/s41574-018-0042-0 10.1002/ajmg.a.32346 10.1530/EJE-16-0107 10.1038/nrendo.2016.52 10.1056/NEJMoa011262 10.1530/EJE-20-0625 10.2147/TACG.S51064 10.1016/j.bone.2017.09.002 10.1210/jc.2009-1451 10.1016/j.bone.2013.06.015 10.1016/j.bone.2006.12.058
Endocrine Ozaki K, Mituboshi A et. al.

Jul 14th, 2021 - Progressive osseous heteroplasia (POH), a genetic disorder, is associated with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism, and primary osteoma cutis and has common features of superficial ossification and GNAS-inactivatin...

Pseudohypoparathyroidism type 1A
https://rarediseases.info.nih.gov/diseases/7486/pseudohypoparathyroidism-type-1a

Apr 12th, 2021 - Pseudohypoparathyroidism type 1A (PHP1A) is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism occurs when your body is unable to respond to parathyroid hormone, a hormone that controls the levels of calcium, phosphorous, and vitamin D i...

A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented wi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796383
BMC Endocrine Disorders; Lu D, Dong A et. al.

Jan 11th, 2021 - Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could...

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
https://doi.org/10.1515/jpem-2020-0192
Journal of Pediatric Endocrinology & Metabolism : JPEM; Vlachopapadopoulou EA, Anagnostou E et. al.

Oct 8th, 2020 - Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and ele...

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings wi...
https://doi.org/10.1515/jpem-2019-0476
Journal of Pediatric Endocrinology & Metabolism : JPEM; Wang Q, Xian J et. al.

Sep 1st, 2020 - Objectives Objectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright's ...

see more →