Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment
| Autor: | Christine Hofmann, Maria Luisa Bianchi, Franz Jakob, Nick Bishop, Núria Guañabens, M. C. Zillikens, Christian Roux |
|---|---|
| Přispěvatelé: | Internal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Pediatrics medicine.medical_specialty Adolescent Endocrinology Diabetes and Metabolism media_common.quotation_subject Hypophosphatasia 030209 endocrinology & metabolism Variable presentation Disease 03 medical and health sciences Presentation 0302 clinical medicine Epidemiology Medicine Humans Enzyme Replacement Therapy media_common business.industry Enzyme replacement therapy medicine.disease Alkaline Phosphatase Mutation 030101 anatomy & morphology business |
| Zdroj: | Osteoporosis International, 31(8), 1445-1460. Springer London |
| ISSN: | 0937-941X |
| Popis: | 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). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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