Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
Osteoporos Int
; 31(8): 1445-1460, 2020 Aug.
Article
em En
| MEDLINE
| ID: mdl-32162014
ABSTRACT
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipofosfatasia
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Humans
Idioma:
En
Revista:
Osteoporos Int
Assunto da revista:
METABOLISMO
/
ORTOPEDIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália