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Literature DB >> 11706743

Familial hypocalciuric hypercalcemia.

D A Heath¹.

Abstract

Entities: Disease

Mesh：

Substances：
Calcium

Year: 2000 PMID： 11706743 DOI： 10.1023/a:1026566418011

Source DB: PubMed Journal: Rev Endocr Metab Disord ISSN： 1389-9155 Impact factor: 6.514

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21 in total

1. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism.

Authors: S Pearce; B Steinmann
Journal: Clin Endocrinol (Oxf) Date: 1999-06 Impact factor: 3.478

2. Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

Authors: F De Luca; K Ray; E E Mancilla; G F Fan; K K Winer; P Gore; A M Spiegel; J Baron
Journal: J Clin Endocrinol Metab Date: 1997-08 Impact factor: 5.958

3. Familial benign hypercalcemia.

Authors: D A Heath
Journal: Trends Endocrinol Metab Date: 1989 Sep-Oct Impact factor: 12.015

4. Familial benign hypercalcemia.

Authors: T P Foley; H C Harrison; C D Arnaud; H E Harrison
Journal: J Pediatr Date: 1972-12 Impact factor: 4.406

5. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds.

Authors: S J Marx; M F Attie; M A Levine; A M Spiegel; R W Downs; R D Lasker
Journal: Medicine (Baltimore) Date: 1981-11 Impact factor: 1.889

6. The parathyroid glands in familial hypocalciuric hypercalcemia.

Authors: U Thorgeirsson; J Costa; S J Marx
Journal: Hum Pathol Date: 1981-03 Impact factor: 3.466

7. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

Authors: D e Cole; C R Forsythe; J M Dooley; E B Grantmyre; S R Salisbury
Journal: J Craniofac Genet Dev Biol Date: 1990

8. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

Authors: N Chikatsu; S Fukumoto; M Suzawa; Y Tanaka; Y Takeuchi; S Takeda; Y Tamura; T Matsumoto; T Fujita
Journal: Clin Endocrinol (Oxf) Date: 1999-04 Impact factor: 3.478

9. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

Authors: S H Pearce; C Williamson; O Kifor; M Bai; M G Coulthard; M Davies; N Lewis-Barned; D McCredie; H Powell; P Kendall-Taylor; E M Brown; R V Thakker
Journal: N Engl J Med Date: 1996-10-10 Impact factor: 91.245

10. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

Authors: M R Pollak; Y H Chou; S J Marx; B Steinmann; D E Cole; M L Brandi; S E Papapoulos; F H Menko; G N Hendy; E M Brown
Journal: J Clin Invest Date: 1994-03 Impact factor: 14.808

6 in total

Familial hypocalciuric hypercalcemia.

1. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism.

2. Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

3. Familial benign hypercalcemia.

4. Familial benign hypercalcemia.

5. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds.

6. The parathyroid glands in familial hypocalciuric hypercalcemia.

7. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

8. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

9. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

10. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

1. [Prophylactic parathyroidectomy for familial parathyroid carcinoma].

Review 2. Familial hypocalciuric hypercalcemia and related disorders.

3. Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia.

4. Pre-analytical mysteries: A case of severe hypervitaminosis D and mild hypercalcaemia.

5. Misleading localization by ¹⁸F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report.

Review 6. A clinical perspective of parathyroid hormone related hypercalcaemia.