@article{ART002562433,
author={Seung Jae Lee and Dong Won Lee and Won Duck Kim},
title={Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation},
journal={Neonatal medicine},
issn={2287-9412},
year={2020},
volume={27},
number={1},
pages={26-30},
doi={https://doi.org/10.5385/nm.2020.27.1.26},
url={https://doi.org/10.5385/nm.2020.27.1.26}
}

TY - JOUR
AU - Seung Jae Lee
AU - Dong Won Lee
AU - Won Duck Kim
TI - Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation
T2 - Neonatal medicine
JO - Neonatal medicine
PY - 2020
VL - 27
IS - 1
PB - 대한신생아학회
SP - 26
EP - 30
SN - 2287-9412
AB - 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 respiratory failure, requiring the use of a mechanical ventilator. Physical examination revealed a large bulging anterior fontanelle, soft skull bone, and radial deviation of both wrists. Laboratory examination showed normal serum calcium, low parathyroid hormone, normal 25-hydroxy vitamin D, and severely low alkaline phosphatase levels. Skeletal X-ray revealed dysplasia of the skull and cupping of the epiphysis of the limbs. Two heterozygous mutations (c.1052A>G, c.1559delT) of the ALPL gene were identified by Sanger sequencing. Thus, we report a case of confirmed lethal perinatal hypophosphatasia in Korea.
KW - Hypophosphatasia, ALPL, Alkaline phosphatase, Lethal perinatal hypophosphatasia
DO - https://doi.org/10.5385/nm.2020.27.1.26
UR - https://doi.org/10.5385/nm.2020.27.1.26
ER -

Seung Jae Lee, Dong Won Lee and Won Duck Kim. 2020, "Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation", Neonatal medicine, vol.27, no.1 pp.26-30. Available from: doi:https://doi.org/10.5385/nm.2020.27.1.26

Seung Jae Lee, Dong Won Lee, Won Duck Kim "Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation" Neonatal medicine 27.1 pp.26-30 (2020) : 26.

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

Seung Jae Lee, Dong Won Lee and Won Duck Kim. "Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation" Neonatal medicine 27, no.1 (2020) : 26-30.doi: https://doi.org/10.5385/nm.2020.27.1.26

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

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

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

Seung Jae Lee, Dong Won Lee and Won Duck Kim. "Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation" Neonatal medicine 27, no.1 (2020) : 26-30.doi: https://doi.org/10.5385/nm.2020.27.1.26