Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day. Other symptoms included res piratory failure, requiring the use of a mec...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Neonatology
2020-02-01
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| Series: | Neonatal Medicine |
| Subjects: | |
| Online Access: | http://www.neo-med.org/upload/pdf/nm-2020-27-1-26.pdf |