Neonatal Severe Hyperparathyroidism
Last Posted: Jan 30, 2019
- 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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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