PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2021.00444202130135-37Neonatal-Onset PIGT Encephalopathy: A Rare Korean Case with HypophosphatasiaMin Jun Chun, Yeon Sook Moon, Woo Ri Jang, Jong Hee Chae, Young Se Kwonhttp://annchildneurol.org/upload/pdf/acn-2021-00444.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2021.00444, http://annchildneurol.org/upload/pdf/acn-2021-00444.pdf
Brain and Development10.1016/0387-7604(93)90086-n1993156448-452A case of chronic epileptic encephalopathy of neonatal onsetJun Kohyama, Naomitsu Suzuki, Michiko Kajiwara, Masayuki Shimohira, Yoshihide Iwakawahttps://api.elsevier.com/content/article/PII:038776049390086N?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:038776049390086N?httpAccept=text/plain
Korean Journal of Pediatrics10.3345/kjp.2007.50.6.5852007506585A case of neonatal peroneal neuropathy with intrauterine onsetSang-Soo Lee, Ji-Yun Sim, Mi-Jung Kimhttp://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2007.50.6.585
CVIR Endovascular10.1186/s42155-020-00118-1202031Adult-onset portosystemic encephalopathy caused by patent ductus venosus successfully treated with endovascular coil embolization: a rare case reportHiromi Muranishi, Yasuo Komurahttps://link.springer.com/content/pdf/10.1186/s42155-020-00118-1.pdf, https://link.springer.com/article/10.1186/s42155-020-00118-1/fulltext.html, https://link.springer.com/content/pdf/10.1186/s42155-020-00118-1.pdf
Archives de Pédiatrie10.1016/j.arcped.2021.02.0192021286496-499Hypophosphatasia as a rare cause of neonatal seizuresA. Kavčič, D. Paro-Panjan, A. Soltirovska-Šalamonhttps://api.elsevier.com/content/article/PII:S0929693X2100049X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0929693X2100049X?httpAccept=text/plain
Journal of the Endocrine Society10.1210/jendso/bvab048.38020215Supplement_1A187-A188Case of Juvenile Onset Hypophosphatasia Diagnosed in an Adult PatientNirmal Nairhttp://academic.oup.com/jes/article-pdf/5/Supplement_1/A187/37200133/bvab048.380.pdf, http://academic.oup.com/jes/article-pdf/5/Supplement_1/A187/37200133/bvab048.380.pdf
Endocrine Practice10.1016/s1530-891x(20)39736-620202670-71Abstract #806755: Adult Hypophosphatasia: A Rare and Underrecognized Phenomena, Case ReportLosty Torres Potterhttps://api.elsevier.com/content/article/PII:S1530891X20397366?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1530891X20397366?httpAccept=text/plain
Orphanet Journal of Rare Diseases10.1186/1750-1172-2-40200721HypophosphatasiaEtienne Mornethttp://link.springer.com/content/pdf/10.1186/1750-1172-2-40.pdf, http://link.springer.com/article/10.1186/1750-1172-2-40/fulltext.html, http://link.springer.com/content/pdf/10.1186/1750-1172-2-40.pdf
Neonatal Medicine10.5385/nm.2020.27.1.26202027126-30Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene MutationSeung Jae Lee, Dong Won Lee, Won Duck Kimhttp://neo-med.org/upload/pdf/nm-2020-27-1-26.pdf, http://neo-med.org/journal/view.php?doi=10.5385/nm.2020.27.1.26, http://neo-med.org/upload/pdf/nm-2020-27-1-26.pdf
Journal of the Endocrine Society10.1210/jendso/bvab048.36020215Supplement_1A178-A178A Rare Presentation of Non-Traumatic Recurring Bone Fractures in Adult Patient With Juvenile Onset HypophosphatasiaSarah Elmedani, Steven Douedi, Khin Zin, Raquel Ong, Jennifer Chenghttp://academic.oup.com/jes/article-pdf/5/Supplement_1/A178/37200794/bvab048.360.pdf, http://academic.oup.com/jes/article-pdf/5/Supplement_1/A178/37200794/bvab048.360.pdf