ISSN:1308-5727 E-ISSN:1308-5735

Original Article

Could Alerting Physicians for Low Alkaline Phosphatase Levels Be Helpful in Early Diagnosis of Hypophosphatasia?
  • Asma Deeb
  • Abubaker Elfatih
J Clin Res Pediatr Endocrinol 2018; 10: 19-24 DOI: 10.4274/jcrpe.4426 PMID:28766503
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Case Report

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report
  • Hüseyin Demirbilek
  • Yasemin Alanay
  • Ayfer Alikaşifoğlu
  • Meral Topçu
  • Etienne Mornet
  • Alev Özön
  • Nurgün Kandemir
J Clin Res Pediatr Endocrinol 2012; 4: 34-38 DOI: 10.4274/jcrpe.473 PMID:22394703
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Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
  • Banu Güzel Nur
  • Gamze Çelmeli
  • Esra Manguoğlu
  • Erdoğan Soyucen
  • İffet Bircan
  • Ercan Mıhçı
J Clin Res Pediatr Endocrinol 2016; 8: 360-364 DOI: 10.4274/jcrpe.2798 PMID:27086862
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Case Report

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation
  • Roger Esmel-Vilomara
  • Susana Hernández
  • Ariadna Campos-Martorel
  • Eva González-Roca
  • Diego Yeste
  • Félix Castillo
J Clin Res Pediatr Endocrinol 2020; 12: 104-108 DOI: 10.4274/jcrpe.galenos.2019.2018.0263 PMID:30929401
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A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy
  • Bülent Hacıhamdioğlu
  • Gamze Özgürhan
  • Catarina Pereira
  • Emre Tepeli
  • Gülşen Acar
  • Serdar Cömert
J Clin Res Pediatr Endocrinol 2019; 11: 306-310 DOI: 10.4274/jcrpe.galenos.2018.2018.0217 PMID:30468149
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Original Research

Clinical and Genetic Findings of Turkish Hypophosphatasia Cases
  • Halil Sağlam
  • Şahin Erdöl
  • Sevil Dorum
J Clin Res Pediatr Endocrinol 2017; 9: 229-236 DOI: 10.4274/jcrpe.4549 PMID:28663156
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Other

A Case of Odontohypophosphatasia and Family Investigation
  • Esra Deniz Papatya Çakır
  • Mehmet Türe
  • Halil Sağlam
  • Seyit Ahmet Uçaktürk
  • Şahin Erdöl
  • Erdal Eren
  • Tahsin Yakut
  • Ömer Tarım
J Clin Res Pediatr Endocrinol 2015; 7: 67-67
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An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene
  • Banu Güzel Nur
  • Gamze Çelmeli
  • Erdoğan Soyuçen
  • Iffet Bircan
  • Ercan Mihçi
J Clin Res Pediatr Endocrinol 2015; 7: 79-79
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Latest Update: 08.07.2021
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