Neonatal Severe Hyperparathyroidism
What's New
Last Posted: Feb 20, 2023
- Rare diseases caused by abnormal calcium sensing and signalling.
T?ke Judit, et al. Endocrine 2021 0 (3) 611-617 - Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
Felderbauer P, et al. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2005 0 (1) 31-4 - Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
Cristina Eller-Vainicher et al. Best practice & research. Clinical endocrinology & metabolism 2018 Dec 32(6) 861-875 - Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo Markus, et al. European journal of endocrinology / European Federation of Endocrine Societies 2016 11 (5) 421-31 - Neonatal severe hyperparathyroidism
From NCATS Genetic and Rare Diseases Information Center - Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole David E C, et al. Journal of molecular endocrinology 2009 4 (4) 331-9
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
- Gaucher Disease
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- Graves Disease
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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