Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy

MP Senanayake; I Karunaratne

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Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy

机译：儿童贝拉迪内利-塞普先天性全身性脂肪营养不良的两个异常特征

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《Ceylon Medical Journal》 |2014年第3期|共3页
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MP Senanayake; I Karunaratne;
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中图分类基础医学;
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1. Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome [J] . Ahya Zaridoust, Ali Rabbani, Sima Hosseinverdi, Acta medica Iranica. . 2018,第4期

机译：Berardinelli-Seip先天性脂肪营养不良综合征患儿的AGPAT2基因中的新型纯合突变。
2. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) [J] . Tim Bennett, Mark Allford Paediatric anaesthesia . 2012,第3期

机译：先天性广泛性脂肪营养不良（贝拉迪内利-塞普综合征）患儿的麻醉延迟出现
3. Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types [J] . NilayGüne?, TülayErkan, TufanKutlu, Journal of Clinical Research in Pediatric Endocrinology . 2017,第1期

机译：肌肉型脂肪营养不良症的诊断与新生儿的发现：贝拉迪内利-塞普先天性脂肪营养不良症类型4和类型之间的比较。
4. How well do U-Net-based segmentation trained on adult cardiac magnetic resonance imaging data generalise to rare congenital heart diseases for surgical planning? [C] . Sven Koehler, Animesh Tandon, Tarique Hussain, Conference on Medical Imaging: Image-Guided Procedures, Robotic Interventions, and Modeling . 2020

机译：在成人心脏磁共振成像数据上训练的基于U-Net的分割方法如何普遍适用于罕见的先天性心脏病以进行手术计划？
5. Structural Features and Functional Residues Important for the Activity of an Unusual Membrane Bound O-Acyltransferase [D] . Tran, Tam Nguyen Thu. 2017

机译：对异常膜结合的O-酰基转移酶的活性重要的结构特征和功能残基
6. Case Report: Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome) [O] . Partha Pratim Chakraborty, Saumik Datta, Satinath Mukhopadhyay, 2016

机译：病例报告：先天性广义脂肪营养不良（贝拉迪内利-塞普综合征）中的假肢肥大症
7. Berardinelli-Seip Congenital Lipodystrophy in a Filipino Child [O] . 2021

机译：Berardinelli-seip先天性脂肪脂肪在菲律宾孩子

Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy

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