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Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
Seung Jae Lee, Dong Won Lee, Won Duck Kim
Neonatal Med. 2020;27(1):26-30.   Published online February 29, 2020
DOI: https://doi.org/10.5385/nm.2020.27.1.26

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Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
Neonatal Medicine. 2020;27(1):26-30   Crossref logo
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A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene
Clinical Genetics. 2007;73(3):245-250   Crossref logo
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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
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A Homoallelic Gly317 → Asp Mutation in ALPL Causes the Perinatal (Lethal) Form of Hypophosphatasia in Canadian Mennonites
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Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers
Journal of Human Genetics. 2011;56(3):174-176   Crossref logo
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Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers
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Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
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OP27.04: Novel “alkaline phosphatase-liver/bone/kidney (ALPL)” gene mutation identified in a case of hypophosphatasia
Ultrasound in Obstetrics & Gynecology. 2014;44(S1):149-149   Crossref logo
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Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
Bone Reports. 2020;12:100247   Crossref logo
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A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
Frontiers in Pediatrics. 2020;8:   Crossref logo
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