Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp364 | Other diseases of bone and mineral metabolism | ECTS2014

Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms

Whyte Michael , Leung Edward , Wilcox William , Liese Johannes , Reeves Amy , Melian Agustin , Odrljin Tatjana , Zhang Hui , Hofmann Christine

Background: Hypophosphatasia (HPP) is caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase. Extracellular accumulation of inorganic pyrophosphate can lead to profound hypomineralization resulting in limb and chest deformity, respiratory complications and vitamin B6-dependent seizures in the severe forms of HPP. The natural history of HPP is poorly understood, but the perinatal and infantile forms are often considered lethal.<p class="...

ba0004p103 | (1) | ICCBH2015

Gait assessment in children with childhood hypophosphatasia: impairments in muscle strength and physical function

Phillips Dawn , Griffin Donna , Przybylski Tracy , Morrison Erica , Reeves Amy , Vallee Marc , Fujita Kenji , Madson Katherine , Whyte Michael

Objectives: Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by low tissue nonspecific alkaline phosphatase activity. HPP manifests a wide spectrum of complications, which may include HPP-related rickets and compromised physical function in children.Methods: We report on clinical gait assessments based on archival video recordings of six children with onset of HPP symptoms at ≧6 months and documented HPP-related skeletal abnor...

ba0004p136 | (1) | ICCBH2015

A modified performance-oriented mobility assessment tool for assessing clinically relevant gait impairments and change in children with hypophosphatasia: development and validation

Phillips Dawn , Griffin Donna , Przybylski Tracy , Morrison Erica , Reeves Amy , Vallee Marc , Fujita Kenji , Madson Katherine , Whyte Michael

Objective: Mobility is an important endpoint in patient care with implications for activities of daily living, community participation, and quality of life. We adapted the performance-oriented mobility assessment (POMA-G),1 a widely used and validated clinical gait assessment tool for adults, to use in children with hypophosphatasia (HPP). HPP is the rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue non-specific alkaline phosp...