|本期目录/Table of Contents|

[1]申明琪,辛玥,郑荣秀,等.新生儿期Prader-Willi综合征1例报告[J].天津医科大学学报,2023,29(02):208-211.
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新生儿期Prader-Willi综合征1例报告(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
29卷
期数:
2023年02期
页码:
208-211
栏目:
病例报告
出版日期:
2023-03-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2023)02-0208-04
作者:
申明琪辛玥郑荣秀阚璇
天津医科大学总医院儿科,天津300052
Author(s):
-
关键词:
新生儿Prader-Willi综合征肌张力低下
Keywords:
-
分类号:
R722.11
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] PRADER A,LABHART A,WILLI H. Ein syndrom von adipositas, kleinwuchs,kryptorchismus and oligophrenianach myatonieartigem zustand im neugeborenenalter[J]. Schweiz Med Wochenschr,1956, 86:1260-1261.
[2] BUTLER M G,MILLER J L,FORSTER J L. Prader-Willi syn-drome-clinical genetics,diagnosis and treatment approaches:an up-date[J]. Curr Pediatr Rev,2019,15(4):207-244.
[3] NOORDAM C,HOYBYE C,EIHOLZER U. Prader-Willi syndrome and hypogonadism:a review article[J]. Int J Mol Sci,22(5):2705.
[4] DUIS J,VAN WATTUM P J,SCHEIMANN A,et al. A multidisci-plina ry approach to the clinical management of Prader-Willi syn-drome[J]. Mol Genet Genomic Med,2019,7(3):e514.
[5] 中华医学会儿科学分会内分泌遗传代谢学组,《中华儿科杂志》编辑委员会.中国Prader-Willi综合 征诊治专家共识(2015)[J].中华儿科杂志,2015,53(6):419-424.
[6] 中华医学会医学遗传学分会遗传病临床实 践指南撰写组 . Prader-Willi综合 征的临床实 践指南[J].中华医学遗传学杂志, 2020,37(3):318-323.
[7] GE M M,GAO Y Y,WU B B,et al. Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syn-drome[J] .Mol Biol Rep,2019,46(5):4717-4724 .
[8] 王欣,曲书强. Prader-Willi综合 征的治疗进展[J].中国儿童保健杂志,2020,28(7):752-755.
[9] TAN Q,ORSSO C E,DEEHAN E C,et al. Current and emerging therapies for managing hyperphagia and obesity in Prader-Willi syndrome:a narrative review[J]. Obes Rev,2020,21(5):e12992.
[10] DONZE S H,DAMEN L,MAHABIER E F,et al. Improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi syndrome[J]. J Clin Endocrinol Metab, 2018,103(10):3714-3719.
[11] PASSONE CBG,PASQUALUCCI P L,Franco R R,et al. Prader-Willi syndrome:what is the general pediatrician supposed to do-a review[J]. Rev Paul Pediatr,2018,36(3):345-352.

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备注/Memo

备注/Memo:
作者简介:申明琪(1979-),硕士,主治医师,研究方向:新生儿内科;
通信作者:辛玥,E-mail:xy_xy0713@eyou.com。
更新日期/Last Update: 2023-04-30