Loss‐of‐Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase-Reference-Cited by-同舟云学术

Loss‐of‐Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

Published:2020-01-07 Issue:4 Volume:35 Page:657-661
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Alonso Nerea¹^ORCID,Larraz‐Prieto Beatriz¹,Berg Kathryn¹,Lambert Zoe¹,Redmond Paul²,Harris Sarah E²³,Deary Ian J²³,Pugh Carys⁴,Prendergast James⁵,Ralston Stuart H¹^ORCID

Affiliation:

1. Rheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, MRC institute of Genetics and Molecular MedicineUniversity of Edinburgh Edinburgh UK

2. Department of PsychologyUniversity of Edinburgh Edinburgh UK

3. Centre for Cognitive Ageing and Cognitive EpidemiologyUniversity of Edinburgh Edinburgh UK

4. Division of PsychiatryUniversity of Edinburgh, Royal Edinburgh Hospital Edinburgh UK

5. Genetics and Genomics DivisionThe Roslin Institute, University of Edinburgh Midlothian UK

Funder

Age UK

Biotechnology and Biological Sciences Research Council

Medical Research Council Canada

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.3928

Reference27 articles.

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2. A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population

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4. Lack of Sustained Response to Teriparatide in a Patient with Adult Hypophosphatasia

5. Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia

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