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FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA: ASSOCIATION WITH NEONATAL PRIMARY HYPERPARATHYROIDISM, AND POSSIBLE LINKAGE WITH HLA HAPLOTYPE

โœ Scribed by A. M. SOPWITH; CLAIRE BURNS; D. B. GRANT; G. W. TAYLOR; EVA WOLF; G. M. BESSER


Book ID
114718145
Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
497 KB
Volume
21
Category
Article
ISSN
0300-0664

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Neonatal severe hyperparathyroidism, sec
โœ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 43 KB ๐Ÿ‘ 2 views

Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc