标题
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia
作者
关键词
Alkaline phosphatase, ALPL, Pyridoxal-5-phosphate, Rare bone diseases
出版物
OSTEOPOROSIS INTERNATIONAL
Volume 28, Issue 9, Pages 2653-2662
出版商
Springer Nature
发表日期
2017-05-25
DOI
10.1007/s00198-017-4087-z
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges
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- ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE
- (2016) Pauline M. Camacho et al. Endocrine Practice
- Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults
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- Sex- and Site-Specific Normative Data Curves for HR-pQCT
- (2016) Lauren A Burt et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
- (2016) Michael P. Whyte et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys
- (2016) Thomas J. Weber et al. METABOLISM-CLINICAL AND EXPERIMENTAL
- Physical therapy management of infants and children with hypophosphatasia
- (2016) Dawn Phillips et al. MOLECULAR GENETICS AND METABOLISM
- Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
- (2016) Michael P. Whyte Nature Reviews Endocrinology
- Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients
- (2015) Michael P. Whyte et al. BONE
- Hypophosphatasia: an overview of the disease and its treatment
- (2015) M. L. Bianchi OSTEOPOROSIS INTERNATIONAL
- Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia
- (2014) Christine Hofmann et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia
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- Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia
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- “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia
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- Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
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- Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
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- A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population
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- Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis
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- Physiological role of alkaline phosphatase explored in hypophosphatasia
- (2010) Michael P. Whyte Annals of the New York Academy of Sciences
- Finite element analysis performed on radius and tibia HR-pQCT images and fragility fractures at all sites in men
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- (2009) DEC Cole CLINICAL GENETICS
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