Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
OSTEOGENESIS IMPERFECTA AND OTHER HERITABLE DISORDERS OF BONE
Autore:
PATERSON CR;
Indirizzi:
UNIV DUNDEE,NINEWELLS HOSP & MED SCH,DEPT MED DUNDEE DD1 9SY SCOTLAND
Titolo Testata:
Bailliere's clinical endocrinology and metabolism
fascicolo: 1, volume: 11, anno: 1997,
pagine: 195 - 213
SICI:
0950-351X(1997)11:1<195:OIAOHD>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; ALBRIGHT HEREDITARY OSTEODYSTROPHY; AUTOSOMAL RECESSIVE OSTEOPETROSIS; PRIMARY HYPERPARATHYROIDISM; INFANTILE HYPOPHOSPHATASIA; BENIGN HYPERCALCEMIA; PRO-ALPHA-1(I) CHAIN; ALKALINE-PHOSPHATASE; PRENATAL-DIAGNOSIS; FIBROUS DYSPLASIA;
Keywords:
OSTEOGENESIS IMPERFECTA; OSTEOPETROSIS; HYPOPHOSPHATASIA; PSEUDOHYPOPARATHYROIDISM; ALBRIGHTS HEREDITARY OSTEODYSTROPHY; MCCUNE-ALBRIGHT SYNDROME; FAMILIAL BENIGN HYPERCALCEMIA; CHONDRODYSPLASIA; PARATHYROID HORMONE; CALCIUM RECEPTOR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
94
Recensione:
Indirizzi per estratti:
Citazione:
C.R. Paterson, "OSTEOGENESIS IMPERFECTA AND OTHER HERITABLE DISORDERS OF BONE", Bailliere's clinical endocrinology and metabolism, 11(1), 1997, pp. 195-213

Abstract

This chapter summarizes the many recent advances in our understandingof the principal heritable disorders of bone. In the course of littlemore than a decade many diseases that were recognizable only by theirclinical and radiological features have become explicable in molecular terms. Large numbers of mutations of the genes coding for collagen, for alkaline phosphatase, for the cell surface receptors for parathyroid hormone and for calcium, and for a number of other proteins, are recognized. The chapter covers the many variants of osteogenesis imperfecta, the most common heritable cause of fractures. It also covers osteopetrosis, hypophosphatasia, pseudohypoparathyroidism (with Albright'shereditary osteodystrophy), familial benign hypercalcaemia, autosomaldominant hypocalcaemia and the molecular causes of some chondrodysplasias.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 15:16:21