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Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure.中枢性先天性低通气综合征伴低血糖和癫痫发作。
Respir Med Case Rep. 2016 Dec 18;20:75-76. doi: 10.1016/j.rmcr.2016.12.004. eCollection 2017.
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Congenital Central Hypoventilation Syndrome Presenting with Seizures.以癫痫发作为表现的先天性中枢性低通气综合征
Cureus. 2020 Jan 16;12(1):e6680. doi: 10.7759/cureus.6680.
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Dysregulated glucose homeostasis in congenital central hypoventilation syndrome.先天性中枢性低通气综合征中葡萄糖稳态失调
J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1325-1333. doi: 10.1515/jpem-2018-0086.
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Congenital central hypoventilation syndrome and hypoglycaemia.先天性中枢性低通气综合征伴低血糖症。
Acta Paediatr. 2012 Feb;101(2):e92-6. doi: 10.1111/j.1651-2227.2011.02533.x.
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.先天性中枢性低通气综合征合并先天性巨结肠：病例报告及文献复习
Rev Paul Pediatr. 2016 Sep;34(3):374-8. doi: 10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6.
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Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.先天性中枢性低通气综合征：病因发病机制、相关病变、临床表现及治疗概述
Auton Neurosci. 2018 Mar;210:1-9. doi: 10.1016/j.autneu.2017.11.003. Epub 2017 Nov 13.
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Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.先天性中枢性低通气综合征患者的麻醉考量：文献系统综述
Anesth Analg. 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470.
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Congenital central hypoventilation syndrome: diagnosis and management.先天性中枢性低通气综合征：诊断与管理。
Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28.
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Congenital central hypoventilation syndrome: a case report.先天性中枢性低通气综合征：一例报告。
Adv Neonatal Care. 2011 Jun;11(3):167-72. doi: 10.1097/ANC.0b013e31821cfe26.
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Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel Exon 1 Missense Mutation.卡马西平改善伴有新型外显子 1 错义突变的先天性中枢性肺泡换气不足综合征（CCHS）的呼吸暂停发作。
J Clin Sleep Med. 2017 Nov 15;13(11):1359-1362. doi: 10.5664/jcsm.6818.
引用本文的文献
1
Syndromic forms of congenital hyperinsulinism.先天性高胰岛素血症的综合征形式。
Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023.
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How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center.先天性中枢性低通气综合征患儿的管理如何随时间变化：来自意大利一个中心的二十年经验
Front Pediatr. 2021 Mar 29;9:648927. doi: 10.3389/fped.2021.648927. eCollection 2021.
3
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.先天性中枢性低通气综合征的诊断和管理指南。
Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2.
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Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.PHOX2B 基因exon 3 中的两个新突变：考虑先天性中枢性低通气综合征合并巨结肠的患者。
Ital J Pediatr. 2019 Apr 18;45(1):49. doi: 10.1186/s13052-019-0636-8.
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The genetics of congenital central hypoventilation syndrome: clinical implications.先天性中枢性低通气综合征的遗传学：临床意义。
Appl Clin Genet. 2018 Nov 15;11:135-144. doi: 10.2147/TACG.S140629. eCollection 2018.
本文引用的文献
1
Counter-regulatory control of homeostasis during hypoglycaemia: adrenaline hits the sweet spot in the controversy concerning carotid body glucose sensing.低血糖期间内环境稳态的对抗调节控制：在关于颈动脉体葡萄糖感知的争议中，肾上腺素击中了关键点。
J Physiol. 2016 Aug 1;594(15):4091-2. doi: 10.1113/JP272506.
2
Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.先天性中枢性低通气综合征合并先天性巨结肠：病例报告及文献复习
Rev Paul Pediatr. 2016 Sep;34(3):374-8. doi: 10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6.
3
Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome.先天性中枢性低通气综合征中葡萄糖稳态的自主神经功能障碍。
Acta Paediatr. 2013 Apr;102(4):e178-80. doi: 10.1111/apa.12125. Epub 2012 Dec 29.
4
Congenital central hypoventilation syndrome and hypoglycaemia.先天性中枢性低通气综合征伴低血糖症。
Acta Paediatr. 2012 Feb;101(2):e92-6. doi: 10.1111/j.1651-2227.2011.02533.x.
5
Breathing with phox2b.与phox2b相关的呼吸
Philos Trans R Soc Lond B Biol Sci. 2009 Sep 12;364(1529):2477-83. doi: 10.1098/rstb.2009.0085.
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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.一名早产儿患先天性中枢性低通气综合征合并高胰岛素血症。
J Hum Genet. 2008;53(6):573-577. doi: 10.1007/s10038-008-0275-1. Epub 2008 Mar 14.
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Norepinephrine and epinephrine-deficient mice are hyperinsulinemic and have lower blood glucose.去甲肾上腺素和肾上腺素缺乏的小鼠存在高胰岛素血症且血糖较低。
Endocrinology. 2003 Oct;144(10):4427-32. doi: 10.1210/en.2003-0561. Epub 2003 Jun 26.
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Hyperinsulinism in syndromal disorders.综合征性疾病中的高胰岛素血症。
Acta Paediatr. 2001 Aug;90(8):856-9.
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