137 related articles for article (PubMed ID: 28984260)
1. 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]
2. 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]
3. 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]
4. Glycogen storage disease type VI: clinical course and molecular background.
Aeppli TR; Rymen D; Allegri G; Bode PK; Häberle J
Eur J Pediatr; 2020 Mar; 179(3):405-413. PubMed ID: 31768638
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.
Tang NL; Hui J; Young E; Worthington V; To KF; Cheung KL; Li CK; Fok TF
Mol Genet Metab; 2003 Jun; 79(2):142-5. PubMed ID: 12809646
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Roscher A; Patel J; Hewson S; Nagy L; Feigenbaum A; Kronick J; Raiman J; Schulze A; Siriwardena K; Mercimek-Mahmutoglu S
Mol Genet Metab; 2014 Nov; 113(3):171-6. PubMed ID: 25266922
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Liver histology in children with glycogen storage disorders type VI and IX.
Degrassi I; Deheragoda M; Creegen D; Mundy H; Mustafa A; Vara R; Hadzic N
Dig Liver Dis; 2021 Jan; 53(1):86-93. PubMed ID: 32505569
[TBL] [Abstract][Full Text] [Related]
13. High frequency of missense mutations in glycogen storage disease type VI.
Beauchamp NJ; Taybert J; Champion MP; Layet V; Heinz-Erian P; Dalton A; Tanner MS; Pronicka E; Sharrard MJ
J Inherit Metab Dis; 2007 Oct; 30(5):722-34. PubMed ID: 17705025
[TBL] [Abstract][Full Text] [Related]
14. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Chang S; Rosenberg MJ; Morton H; Francomano CA; Biesecker LG
Hum Mol Genet; 1998 May; 7(5):865-70. PubMed ID: 9536091
[TBL] [Abstract][Full Text] [Related]
15. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
Liang Y; Du C; Wei H; Zhang C; Zhang M; Hu M; Fang F; Luo X
Mol Genet Genomic Med; 2020 Oct; 8(10):e1444. PubMed ID: 32772503
[TBL] [Abstract][Full Text] [Related]
16. Type-VI glycogen storage disease with compound mutation of the PYGL gene.
Long Q; Luo Y; Zeng M; Ye T
Asian J Surg; 2024 Apr; 47(4):1919-1920. PubMed ID: 38182518
[No Abstract] [Full Text] [Related]
17. [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]
18. [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]
19. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
Burwinkel B; Bakker HD; Herschkovitz E; Moses SW; Shin YS; Kilimann MW
Am J Hum Genet; 1998 Apr; 62(4):785-91. PubMed ID: 9529348
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
