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Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases

1 Jan 2010

Abstract excerpt

Hypophosphatasia is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. It is classified into 6 subtypes, and the perinatal lethal form of hypophosphatasia is the most severe. Patients with this form suffer from various symptoms, including respiratory failure, premature craniosynostosis, rachitic changes in the metaphyses, convulsions and hypercalcemia. This report...

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PMID: 23926372
DOI: 10.1297/cpe.19.7

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