Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8316850 | Clinical Biochemistry | 2018 | 8 Pages |
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.
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Authors
Zahra Shajani-Yi, Abigail A. Johnston, Samuel J. Casella, Mark A. Cervinski,