The Mucolipidoses in Australia - The Role of Secondary Metabolic Bone Disease Dr Grace David Professor David Sillence MUCOLIPIDOSES biochemically-related disorders of ...
GENETIC DISORDERS Neurofibromatosis (commonly abbreviated NF) is a genetically-inherited disease in which the nerve tissue grows tumors (i.e., neurofibromas) that ...
characterised by facial appearance, psychomotor retardation, and severe skeletal ... all confirmed by enzymology testing. 11 living subjects. 5 deceased ...