Journal of pediatric endocrinology & metabolism : JPEM

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Journal of pediatric endocrinology & metabolism : JPEM - 最新文献

A case of JAGN1 mutation presenting with atypical diabetes and immunodeficiency.

Pub Date : 2025-07-21 DOI: 10.1515/jpem-2025-0065 Céline De Cuyper, Willem Staels, Siel Daelemans, Jesse Vanbesien, Elise Nauwynck, Inge Gies

Understanding rickets in osteopetrosis via a case: mechanisms and treatment implications.

Pub Date : 2025-07-17 DOI: 10.1515/jpem-2025-0145 Meliha Esra Bilici, Zeynep Şıklar, Elif Özsu, Serdar Ceylaner, Zehra Aycan, Rukiye Uyanık, Merih Berberoğlu

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Pub Date : 2025-07-15 DOI: 10.1515/jpem-2025-0021 Ayşenur Engin Erdal, Sümeyra Zeynep Özbey, Gülten Burcu Civelek Ürey, Aynur Küçükçongar Yavaş, Berrak Bilginer Gürbüz, Mehmet Gündüz, Esra Kiliç, Avni Merter Keçeli, Aydan Değerliyurt, Çiğdem Seher Kasapkara

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