234 related articles for article (PubMed ID: 24055370)
1. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.
Cho SY; Lam CW; Tong SF; Siu WK
Clin Chim Acta; 2013 Nov; 426():75-8. PubMed ID: 24055370
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
Zhang J; Yuan Y; Ma M; Liu Y; Zhang W; Yao F; Qiu Z
Gene; 2017 Sep; 627():149-156. PubMed ID: 28627441
[TBL] [Abstract][Full Text] [Related]
3. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Fu J; Wang T; Xiao X
BMC Med Genet; 2019 Mar; 20(1):56. PubMed ID: 30925902
[TBL] [Abstract][Full Text] [Related]
4. Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.
Dardik R; Avishai E; Lalezari S; Barg AA; Levy-Mendelovich S; Budnik I; Barel O; Khavkin Y; Kenet G; Livnat T
Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445777
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.
Renault NK; Renault MP; Copeland E; Howell RE; Greer WL
J Hum Genet; 2011 May; 56(5):390-7. PubMed ID: 21412246
[TBL] [Abstract][Full Text] [Related]
7. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK; Dyack S; Dobson MJ; Costa T; Lam WL; Greer WL
Eur J Hum Genet; 2007 Jun; 15(6):628-37. PubMed ID: 17342157
[TBL] [Abstract][Full Text] [Related]
8. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.
Zhu Q; Wen XY; Zhang MY; Jin QL; Niu JQ
Medicine (Baltimore); 2019 Nov; 98(46):e17775. PubMed ID: 31725618
[TBL] [Abstract][Full Text] [Related]
9. Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ; Dalton A; Ramaswami U; Niinikoski H; Mention K; Kenny P; Kolho KL; Raiman J; Walter J; Treacy E; Tanner S; Sharrard M
Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
[TBL] [Abstract][Full Text] [Related]
10. Skewed X chromosome inactivation may be not associated with premature ovarian failure.
Pu D; Wu J; Liu J
Gynecol Endocrinol; 2010 Jun; 26(6):423-8. PubMed ID: 20170342
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Maichele AJ; Burwinkel B; Maire I; Søvik O; Kilimann MW
Nat Genet; 1996 Nov; 14(3):337-40. PubMed ID: 8896567
[TBL] [Abstract][Full Text] [Related]
12. X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.
Chen ST; Chen HL; Ni YH; Chien YH; Jeng YM; Chang MH; Hwu WL
Pediatr Neonatol; 2009 Oct; 50(5):230-3. PubMed ID: 19856867
[TBL] [Abstract][Full Text] [Related]
13. Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
Wang Z; Yan A; Lin Y; Xie H; Zhou C; Lan F
PLoS One; 2013; 8(3):e57977. PubMed ID: 23469258
[TBL] [Abstract][Full Text] [Related]
14. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.
Nguyen NL; Thi Bich Ngoc C; Dung Vu C; Van Tung N; Hoang Nguyen H
Clin Chim Acta; 2020 Sep; 508():9-15. PubMed ID: 32387637
[TBL] [Abstract][Full Text] [Related]
15. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Benner A; Alhaidan Y; Lines MA; Brusgaard K; De Leon DD; Sparkes R; Frederiksen AL; Christesen HT
Am J Med Genet A; 2021 Oct; 185(10):2959-2975. PubMed ID: 34117828
[TBL] [Abstract][Full Text] [Related]
16. Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim TH; Kim KY; Kim MJ; Seong MW; Park SS; Moon JS; Ko JS
Eur J Med Genet; 2020 Jun; 63(6):103921. PubMed ID: 32244026
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
Hendrickx J; Coucke P; Dams E; Lee P; Odièvre M; Corbeel L; Fernandes JF; Willems PJ
Hum Mol Genet; 1995 Jan; 4(1):77-83. PubMed ID: 7711737
[TBL] [Abstract][Full Text] [Related]
18. Neurological Involvement in Glycogen Storage Disease Type IXa due to
Smith C; ; Dicaire MJ; Brais B; La Piana R
Can J Neurol Sci; 2020 May; 47(3):400-403. PubMed ID: 31987065
[TBL] [Abstract][Full Text] [Related]
19. The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B.
Lyu C; Shen J; Zhang J; Xue F; Liu X; Liu W; Fu R; Zhang L; Li H; Zhang D; Zhang X; Cheng T; Yang R; Zhang L
Stem Cells Dev; 2017 Jul; 26(13):1003-1011. PubMed ID: 28401797
[TBL] [Abstract][Full Text] [Related]
20. Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.
Ozcelik T; Uz E; Akyerli CB; Bagislar S; Mustafa CA; Gursoy A; Akarsu N; Toruner G; Kamel N; Gullu S
Eur J Hum Genet; 2006 Jun; 14(6):791-7. PubMed ID: 16596118
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]