Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
Alkaline phosphatase
Bone
Fractures
Hypomineralization
Hypophosphatasia
Teeth
Journal
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
ISSN: 1433-2965
Titre abrégé: Osteoporos Int
Pays: England
ID NLM: 9100105
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
received:
22
07
2019
accepted:
11
02
2020
pubmed:
13
3
2020
medline:
18
2
2021
entrez:
13
3
2020
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 32162014
doi: 10.1007/s00198-020-05345-9
pii: 10.1007/s00198-020-05345-9
doi:
Substances chimiques
Alkaline Phosphatase
EC 3.1.3.1
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM