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Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
Turan S. Turan S. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):58-68. doi: 10.4274/jcrpe.2017.S006. Epub 2017 Dec 27. J Clin Res Pediatr Endocrinol. 2017. PMID: 29280743 Free PMC article. Review.
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. ...These are te …
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of …
Albright's hereditary osteodystrophy and pseudohypoparathyroidism.
Wilson LC, Hall CM. Wilson LC, et al. Semin Musculoskelet Radiol. 2002 Dec;6(4):273-83. doi: 10.1055/s-2002-36726. Semin Musculoskelet Radiol. 2002. PMID: 12541184 Review.
PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidism (PPHP) is a term used for individuals with AHO who have normal end-organ responses to PTH. ...Isolated PTH resistance (PHPIb) can result …
PHP means end-organ resistance to PTH and is subclassified into types Ia, Ib, and Ic and type II. Pseudopseudohypoparathyroidi …
Genetics and epigenetics of parathyroid hormone resistance.
Bastepe M. Bastepe M. Endocr Dev. 2013;24:11-24. doi: 10.1159/000342494. Epub 2013 Feb 1. Endocr Dev. 2013. PMID: 23392091 Review.
In type II, only the PTH-induced urinary excretion of phosphate is blunted, while the cAMP response is unimpaired. ...Mutations in Gsalpha-coding GNAS exons cause PHP-Ia and, in some cases, PHP-Ic, while mutations that disrupt the imprinting of GNAS lead to PHP-Ib. …
In type II, only the PTH-induced urinary excretion of phosphate is blunted, while the cAMP response is unimpaired. ...Mutation …
Molecular genetics of mineral metabolic disorders.
Thakker RV. Thakker RV. J Inherit Metab Dis. 1992;15(4):592-609. doi: 10.1007/BF01799617. J Inherit Metab Dis. 1992. PMID: 1528019 Review.
Thus, the genes causing X-linked hypophosphataemic rickets, Lowe syndrome, X-linked recessive hypoparathyroidism, Di George syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and vitamin D-dependent rickets type I have been map …
Thus, the genes causing X-linked hypophosphataemic rickets, Lowe syndrome, X-linked recessive hypoparathyroidism, Di George syndrome, multip …
[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ib and II].
Vlaeminck-Guillem V, Wémeau JL. Vlaeminck-Guillem V, et al. Presse Med. 1999 Sep 11;28(26):1442-7. Presse Med. 1999. PMID: 10518973 Review. French.
TYPE IB PSEUDOHYPOPARATHYROIDISM: Parathormone resistance is the only manifestation of type Ib pseudohyoparathyroidism, the Albright osteodystrophy and multiple hormone resistance described in type Ia are not observed. ...TYPE II PSEUD
TYPE IB PSEUDOHYPOPARATHYROIDISM: Parathormone resistance is the only manifestation of type Ib pseudohyoparathyroidism,
The actions of parathyroid hormone on bone: relation to bone remodeling and turnover, calcium homeostasis, and metabolic bone disease. Part IV of IV parts: The state of the bones in uremic hyperaparathyroidism--the mechanisms of skeletal resistance to PTH in renal failure and pseudohypoparathyroidism and the role of PTH in osteoporosis, osteopetrosis, and osteofluorosis.
Parfitt AM. Parfitt AM. Metabolism. 1976 Oct;25(10):1157-88. doi: 10.1016/0026-0495(76)90024-x. Metabolism. 1976. PMID: 787723 Review.
In early chronic renal failure, the state of the bones resembles that of type II primary hyperparathyroidism. Cortical bone becomes thinner and more porous, and there is increased extent of surface remodeling. ...The activity of all three of the PTH responsive cell …
In early chronic renal failure, the state of the bones resembles that of type II primary hyperparathyroidism. Cortical bone be …
[Pseudohypoparathyroidism].
Yamamoto M, Akatsu T. Yamamoto M, et al. Nihon Rinsho. 1995 Apr;53(4):991-7. Nihon Rinsho. 1995. PMID: 7752498 Review. Japanese.
Pseudohypoparathyroidism (PsH) is a disease (or syndrome) characterized by biochemical abnormalities of hypoparathyroidism, increased serum PTH levels and the resistance to exogenous PTH. ...This review discusses current concepts and classification of PsH (types I a, I b,
Pseudohypoparathyroidism (PsH) is a disease (or syndrome) characterized by biochemical abnormalities of hypoparathyroidism, increased
Receptors, antibodies, and disease.
Blecher M. Blecher M. Clin Chem. 1984 Jul;30(7):1137-56. Clin Chem. 1984. PMID: 6329552 Review.
Several examples of this group will be discussed, and assays suitable for establishing the presence of anti-receptor antibodies in the sera of such patients will be provided. The disorders to be considered are: type I diabetes mellitus, chronic atrophic gastritis, autoimmu …
Several examples of this group will be discussed, and assays suitable for establishing the presence of anti-receptor antibodies in the sera …
Parathyroid hormone and vitamin D receptors.
Spiegel AM, Marx SJ. Spiegel AM, et al. Clin Endocrinol Metab. 1983 Mar;12(1):221-41. doi: 10.1016/s0300-595x(83)80037-1. Clin Endocrinol Metab. 1983. PMID: 6303646 Review.
Specific examples of the latter include pseudohypoparathyroidism, in which deficient activity of a component (the G unit) of the adenylate cyclase complex may lead to resistance to PTH, and hereditary vitamin D-dependent rickets type II, in which abnormalitie …
Specific examples of the latter include pseudohypoparathyroidism, in which deficient activity of a component (the G unit) of the aden …
Characterization of Albright hereditary osteodystrophy and related disorders.
Koo BB, Schwindinger WF, Levine MA. Koo BB, et al. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995 Jan-Feb;36(1):3-13. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1995. PMID: 7778442 Review.
This form of the disorder is known as pseudohypoparathyroidism (PHP) type Ia. Patients with PHP type Ia usually have relatives with AHO who do not exhibit hormone resistance despite having the same defect in Gs alpha. ...PHP type II, a much rare …
This form of the disorder is known as pseudohypoparathyroidism (PHP) type Ia. Patients with PHP type Ia usually have re …
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