Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
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Title
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
Authors
Keywords
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Journal
Nature Reviews Endocrinology
Volume 12, Issue 4, Pages 233-246
Publisher
Springer Nature
Online
2016-02-19
DOI
10.1038/nrendo.2016.14
References
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Note: Only part of the references are listed.- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
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- Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy
- (2012) Elena Rodriguez et al. PEDIATRIC PULMONOLOGY
- A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population
- (2011) Etienne Mornet et al. ANNALS OF HUMAN GENETICS
- Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
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- Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers
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- Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
- (2009) Areeg H. El-Gharbawy et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy
- (2008) Frank Rutsch et al. Circulation-Cardiovascular Genetics
- Atypical Femoral Fractures, Bisphosphonates, and Adult Hypophosphatasia
- (2008) Michael P Whyte JOURNAL OF BONE AND MINERAL RESEARCH
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