Article ID Journal Published Year Pages File Type
8316850 Clinical Biochemistry 2018 8 Pages PDF
Abstract
Hypophosphatasia was initially considered an unlikely diagnosis for this patient given her lack of characteristic skeletal abnormalities. This diagnosis of hypophosphatasia in this case was complicated by a serum ceruloplasmin concentration at the lower end of the reference interval leading to the genetic testing for Wilson's disease.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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