Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges

(2017) Michael P Whyte   JOURNAL OF BONE AND MINERAL RESEARCH

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

(2016) Leyre Riancho-Zarrabeitia et al.   European Journal of Internal Medicine

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

(2014) Jérémie Silvent et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia

(2014) Fergus Eoin McKiernan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Clinical spectrum of hypophosphatasia diagnosed in adults

(2013) Kathryn E. Berkseth et al.   BONE

“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

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

(2012) Michael P. Whyte et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Etienne Mornet et al.   ANNALS OF HUMAN GENETICS

Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis

(2011) F. Barvencik et al.   OSTEOPOROSIS INTERNATIONAL

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

(2010) Nicolas Vilayphiou et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Whole-body MRI in the childhood form of hypophosphatasia

(2010) C. Beck et al.   RHEUMATOLOGY INTERNATIONAL

Hypophosphatasia update: recent advances in diagnosis and treatment

(2009) DEC Cole   CLINICAL GENETICS