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Journal of pediatric endocrinology & metabolism : JPEM
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期刊缩写:
J Pediatr Endocrinol Metab
ISSN:
2191-0251
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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.
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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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