标题
Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment
作者
关键词
-
出版物
Nature Reviews Endocrinology
Volume 12, Issue 4, Pages 233-246
出版商
Springer Nature
发表日期
2016-02-19
DOI
10.1038/nrendo.2016.14
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。- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
- (2016) Michael P. Whyte et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl−/− mice by administration of soluble (non-targeted) chimeric alkaline phosphatase
- (2015) Kellen C.S. Gasque et al. BONE
- Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients
- (2015) Michael P. Whyte et al. BONE
- Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia
- (2015) B.L. Foster et al. JOURNAL OF DENTAL RESEARCH
- Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia
- (2014) Fergus Eoin McKiernan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Perinatal hypophosphatasia caused by uniparental isodisomy
- (2013) Atsushi Watanabe et al. BONE
- Treatment of Adult Hypophosphatasia with Teriparatide
- (2013) Pauline Camacho et al. Endocrine Practice
- Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle-Aged Sisters
- (2013) Núria Guañabens et al. JOURNAL OF BONE AND MINERAL RESEARCH
- “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia
- (2012) Roger AL Sutton et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
- (2012) Jesse E Otero et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children
- (2012) Fan Zhang et al. JOURNAL OF CLINICAL DENSITOMETRY
- Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
- (2012) Michael P. Whyte et al. NEW ENGLAND JOURNAL OF MEDICINE
- 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)
- (2011) Deborah Wenkert et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Enzyme Replacement Therapy Prevents Dental Defects in a Model of Hypophosphatasia
- (2011) M.D. McKee et al. JOURNAL OF DENTAL RESEARCH
- 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
- (2011) Keiichi Ozono et al. JOURNAL OF HUMAN GENETICS
- Hypophosphatasia: screening and family investigation
- (2010) I. Rubecz et al. CLINICAL GENETICS
- Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: A unified model of the mechanisms of initiation of skeletal calcification
- (2010) Manisha C Yadav et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Prolonged survival and phenotypic correction of Akp2−/− hypophosphatasia mice by lentiviral gene therapy
- (2010) Seiko Yamamoto et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Parathyroid Hormone Treatment Improves Pain and Fracture Healing in Adult Hypophosphatasia
- (2010) Camilla Schalin-Jäntti et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- 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
- Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia*
- (2009) Michael P Whyte et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Neurosurgical aspects of childhood hypophosphatasia
- (2008) H. Collmann et al. CHILDS NERVOUS SYSTEM
- 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
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search