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Titolo:
X-linked dominant and other forms of hypophosphataemic rickets
Autore:
Patzer, L;
Indirizzi:
Univ Jena, Klin Kinder & Jugendmed Jussuf Ibrahim, D-6900 Jena, Germany Univ Jena Jena Germany D-6900 ndmed Jussuf Ibrahim, D-6900 Jena, Germany
Titolo Testata:
MONATSSCHRIFT KINDERHEILKUNDE
fascicolo: 6, volume: 148, anno: 2000,
pagine: 564 - 571
SICI:
0026-9298(200006)148:6<564:XDAOFO>2.0.ZU;2-X
Fonte:
ISI
Lingua:
GER
Soggetto:
REABSORPTION; METABOLISM;
Keywords:
hypophosphataemia; hypophosphataemic rickets; PHEX-gen; review; differential diagnosis;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Patzer, L Univ Jena Klinikum, Klin Kinder & Jugendmed Jussuf Ibrahim, Kochstr 2, D-07740 Jena, Germany Univ Jena Klinikum Kochstr 2 Jena Germany D-07740 Jena, Germany
Citazione:
L. Patzer, "X-linked dominant and other forms of hypophosphataemic rickets", MONATS KIND, 148(6), 2000, pp. 564-571

Abstract

Hereditary hypophosphataemic rickets (familial hypophosphataemias) form a group of different diseases. Much progress has been made over the last few years in understanding the pathogenesis of the disorder but good medical care of these patients is still a challenge for paediatric nephrologists or endocrinologists. Because X-linked dominant hypophosphataemic(XLHR) rickets is the commonest form of inherited hypophosphataemias, it will be describedin detail. New aspects of pathophysiology, diagnosis and therapeutic approach will be reviewed. The clinical, biochemical and molecular features of other forms of hypophosphatemic rickets will be described.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 12:53:07