165 related articles for article (PubMed ID: 36184091)
1. [Clinical features and genetic analysis of a child with glycogen storage disease type VI].
Su L; Zhu C; Wu J; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1099-1102. PubMed ID: 36184091
[TBL] [Abstract][Full Text] [Related]
2. [Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI].
Zheng Y; Kong G; Hu G; Zheng B; Li M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):209-212. PubMed ID: 35076922
[TBL] [Abstract][Full Text] [Related]
3. Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
Luo X; Hu J; Gao X; Fan Y; Sun Y; Gu X; Qiu W
BMC Med Genet; 2020 Apr; 21(1):74. PubMed ID: 32268899
[TBL] [Abstract][Full Text] [Related]
4. A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu B; Wu B; Lu Y; Zhang P; Xiao F; Li G; Wang H; Dong X; Liu R; Li Y; Xie X; Zhou W; Wang J; Lu Y
J Mol Diagn; 2020 Dec; 22(12):1373-1382. PubMed ID: 32961316
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic spectrum of GSD type 6 in Korea.
Hahn JW; Lee H; Seong MW; Kang GH; Moon JS; Ko JS
Orphanet J Rare Dis; 2023 Jun; 18(1):132. PubMed ID: 37264426
[TBL] [Abstract][Full Text] [Related]
6. The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
Grünert SC; Hannibal L; Spiekerkoetter U
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440378
[TBL] [Abstract][Full Text] [Related]
7. Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.
Jagadisan B; Ranganath P
Indian Pediatr; 2017 Sep; 54(9):775-776. PubMed ID: 28984260
[TBL] [Abstract][Full Text] [Related]
8. Glycogen storage disease type VI with a novel PYGL mutation: Two case reports and literature review.
Zhan Q; Lv Z; Tang Q; Huang L; Chen X; Yang M; Lan L; Shan Q
Medicine (Baltimore); 2021 Apr; 100(16):e25520. PubMed ID: 33879691
[TBL] [Abstract][Full Text] [Related]
9. Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Luo X; Duan Y; Fang D; Sun Y; Xiao B; Zhang H; Han L; Liang L; Gong Z; Gu X; Yu Y; Qiu W
Hum Mutat; 2022 May; 43(5):557-567. PubMed ID: 35143115
[TBL] [Abstract][Full Text] [Related]
10. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
Lu SQ; Feng JY; Liu J; Xie XB; Lu Y; Abuduxikuer K
J Pediatr Endocrinol Metab; 2020 Sep; 33(10):1321-1333. PubMed ID: 32892177
[TBL] [Abstract][Full Text] [Related]
11. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
Chen J; Hu C; Ren L; Li J; Lei T; Chen S; Zhao P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):48-51. PubMed ID: 34964966
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of a child with mucopolysaccharidoses type I due to compound heterozygous variants of IDUA gene].
Jia H; Wang C; Liu Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1140-1144. PubMed ID: 36184100
[TBL] [Abstract][Full Text] [Related]
13. [Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].
Feng K; Xia Y; Qu X; Wan F; Yang K; Xu J; Zhang C; Guo H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):749-752. PubMed ID: 38818563
[TBL] [Abstract][Full Text] [Related]
14. [Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
Tian Y; Shi Z; Hou C; Li W; Zhu H; Li X; Chen W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):417-420. PubMed ID: 35446979
[TBL] [Abstract][Full Text] [Related]
15. [Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].
Yuan L; Zhao P; Sheng Q; Mu W; Xu G; Liu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):860-864. PubMed ID: 37368391
[TBL] [Abstract][Full Text] [Related]
16. The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
Wang J; Yu Y; Cai C; Zhi X; Zhang Y; Zhao Y; Shu J
BMC Pediatr; 2022 May; 22(1):284. PubMed ID: 35578201
[TBL] [Abstract][Full Text] [Related]
17. [Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].
Zhu L; Han Y; Qiu S; Xu N; Zhang X; Li Y; Yang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):577-580. PubMed ID: 38684304
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].
Liu M; Lu Y; Ma Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):52-55. PubMed ID: 34964967
[TBL] [Abstract][Full Text] [Related]
19. [Genetic analysis of a child with Kartagener syndrome due to novel compound heterozygous variants of DNAH5 gene].
Zhang S; Wang C; Zhang Y; Hu Y; Li X; Zhi C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):71-75. PubMed ID: 36585005
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].
Zhang Y; Zhang L; Zhou M; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):686-689. PubMed ID: 34247379
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
