原發性纖毛運動障礙一例_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

劉繞星 ¹ , 劉志宏 ¹ , 周莉 ² ,  蔣毅 ¹

1. ;
2. ;

Corresponding?author：

蔣毅, Email: 8jiangyi@163.com

Keywords：

DOI：

10.7507/1671-6205.202206031

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Citation： 劉繞星, 劉志宏, 周莉, 蔣毅. 原發性纖毛運動障礙一例. Chinese Journal of Respiratory and Critical Care Medicine, 2023, 22(12): 884-885. doi: 10.7507/1671-6205.202206031 Copy

1.	Stevanovic N, Skakic A, Minic P, et al. Identification and classification of novel genetic variants: en route to the diagnosis of primary ciliary dyskinesia. Int J Mol Sci, 2021, 22(16): 8821.
2.	Niziolek M, Bicka M, Osinka A, et al. PCD genes-from patients to model organisms and back to humans. Int J Mol Sci, 2022, 23(3): 1749.
3.	Shapiro AJ, Zariwala MA, Ferkol T, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol, 2016, 51(2): 115-132.
4.	Shah A, Laguna TA. Primary ciliary dyskinesia: a rare and often underdiagnosed disease. Pediatr Ann, 2022, 51(2): e82-e85.
5.	Lucas JS, Burgess A, Mitchison HM. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child, 2014, 99(9): 850-856.
6.	Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Rev Mal Respir, 2016, 33(2): 165-189.
7.	Vanaken GJ, Bassinet L, Boon M, et al. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. Eur Respir J, 2017, 50(5): 1700314.
8.	Zhou L, Li Z, Du C, et al. Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia. Mol Med Rep, 2020, 22(6): 4707-4715.

1. Stevanovic N, Skakic A, Minic P, et al. Identification and classification of novel genetic variants: en route to the diagnosis of primary ciliary dyskinesia. Int J Mol Sci, 2021, 22(16): 8821.
2. Niziolek M, Bicka M, Osinka A, et al. PCD genes-from patients to model organisms and back to humans. Int J Mol Sci, 2022, 23(3): 1749.
3. Shapiro AJ, Zariwala MA, Ferkol T, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol, 2016, 51(2): 115-132.
4. Shah A, Laguna TA. Primary ciliary dyskinesia: a rare and often underdiagnosed disease. Pediatr Ann, 2022, 51(2): e82-e85.
5. Lucas JS, Burgess A, Mitchison HM. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child, 2014, 99(9): 850-856.
6. Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Rev Mal Respir, 2016, 33(2): 165-189.
7. Vanaken GJ, Bassinet L, Boon M, et al. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. Eur Respir J, 2017, 50(5): 1700314.
8. Zhou L, Li Z, Du C, et al. Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia. Mol Med Rep, 2020, 22(6): 4707-4715.

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Chinese Journal of Respiratory and Critical Care Medicine

原發性纖毛運動障礙一例

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