Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
HYPOPHOSPHATASIA - DENTAL ASPECTS AND MODE OF INHERITANCE
Autore:
CHAPPLE ILC;
Indirizzi:
BIRMINGHAM DENT SCH,DEPT DENT PERIODONTOL,ST CHADS QUEENSWAY BIRMIGHAM B4 6NN ENGLAND
Titolo Testata:
Journal of clinical periodontology
fascicolo: 9, volume: 20, anno: 1993,
pagine: 615 - 622
SICI:
0303-6979(1993)20:9<615:H-DAAM>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONSPECIFIC ALKALINE-PHOSPHATASE; INFANTILE HYPOPHOSPHATASIA; ADULT HYPOPHOSPHATASIA; PREPUBERTAL PERIODONTITIS; INORGANIC PYROPHOSPHATE; FAMILY; PYRIDOXAL-5'-PHOSPHATE; DIAGNOSIS; BONE; PSEUDOHYPOPHOSPHATASIA;
Keywords:
ALKALINE PHOSPHATASE; HYPOPHOSPHATASIA; HEREDITARY; ALLELIC;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
99
Recensione:
Indirizzi per estratti:
Citazione:
I.L.C. Chapple, "HYPOPHOSPHATASIA - DENTAL ASPECTS AND MODE OF INHERITANCE", Journal of clinical periodontology, 20(9), 1993, pp. 615-622

Abstract

Hypophosphatasia is rare enzymopathy that normally presents within the first few years of life and often has profound effects upon the periodontium. It is a heritable disorder characterised by defective mineralisation of the skeletal and dental structures of the body and a deficiency in the liver/bone/kidney (L/B/K) isoenzyme of alkaline phosphatase (ALP). There has been a tremendous advance in our knowledge of thiscondition over the last decade due to the advent of highly specific DNA probes and novel microanalytical techniques. This paper aims to review current literature about hypophosphatasia with special reference to the dental aspects of the condition and to shed light upon the controversial area of its mode of genetic inheritance. It is concluded thathypophosphatasia may result from the existence of 2 defective alleles, which alone or in combination may cause the condition. One allele isexpressed in an autosomal dominant manner producing milder phenotypiccharacteristics, whilst the other is expressed in an autosomal recessive manner producing the more severe clinical form that often results in neonatal death. The milder phenotypes may go undiagnosed and the consequence of this in genetic counselling terms is extremely important.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 15:35:12