Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understanding of the clinical course and burden of HPP is limited by its rarity. This syst...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Szabo, Shelagh M., Tomazos, Ioannis C., Petryk, Anna, Powell, Lauren C., Donato, Bonnie M. K., Zarate, Yuri A., Tiulpakov, Anatoly, Martos-Moreno, Gabriel Ángel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6485115/
https://ncbi.nlm.nih.gov/pubmed/31023354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1062-0
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