Journal article
The natural history and osteodystrophy of mucolipidosis types II and III
G David-Vizcarra, J Briody, J Ault, M Fietz, J Fletcher, R Savarirayan, M Wilson, J McGill, M Edwards, C Munns, M Alcausin, S Cathey, D Sillence
Journal of Paediatrics and Child Health | Published : 2010
Abstract
Aim: To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III. Methods: Affected children and adults were ascertained from clinical genetics units around Australia and New Zealand. Diagnoses were confirmed by the National Referral Laboratory in Adelaide. The study encompassed all patients ascertained between 1975 and 2005. Data focussing on biochemical parameters at diagnosis, and longitudinal radiographic findings were sought for each patient. Where feasible, patients underwent clinical review and examination. Examinations included skeletal survey, bone densitometry, and measurement of serum and urine markers of bone meta..
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Awarded by National Institute of Neurological Disorders and Stroke
Funding Acknowledgements
We also express our gratitude to Mrs Jenny Noble, secretary Lysosomal Diseases New Zealand, who provided much encouragement and support.