Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

(2016) Michael P. Whyte et al.   BONE

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE

(2016) Pauline M. Camacho et al.   Endocrine Practice

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

(2016) Michael P. Whyte et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Alkaline Phosphatase and Hypophosphatasia

(2015) José Luis Millán et al.   CALCIFIED TISSUE INTERNATIONAL

Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth

(2015) Yoko Okazaki et al.   EUROPEAN JOURNAL OF PEDIATRICS

Pathophysiological Role of Vascular Smooth Muscle Alkaline Phosphatase in Medial Artery Calcification

(2015) Campbell R Sheen et al.   JOURNAL OF BONE AND MINERAL 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

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

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

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

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