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Updated: May 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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一种罕见的单一性肥胖症的新特征:碳氧胺酶E缺乏症

Dicle Canoruc Emet1, Ekim Helhel1, Oytun Portakal2

  • 1Division of Endocrinology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Hormone research in paediatrics
|January 26, 2025
PubMed
概括

碳氧酶E (CPE) 缺乏症呈现出各种内分泌病变,包括葡萄糖和水代谢问题. 早期评估对于识别潜在的垂体激素缺陷和管理复杂的临床特征至关重要.

关键词:
儿童肥胖症 儿童肥胖症内分泌疾病是一种内分泌疾病.酶 是一种酶.遗传学 是一个遗传学.

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