180 related articles for article (PubMed ID: 22899091)
1. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J; Cui H; Lee NC; Hwu WL; Chien YH; Craigen WJ; Wong LJ; Zhang VW
Genet Med; 2013 Feb; 15(2):106-14. PubMed ID: 22899091
[TBL] [Abstract][Full Text] [Related]
2. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C
Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.
Beyzaei Z; Ezgu F; Geramizadeh B; Imanieh MH; Haghighat M; Dehghani SM; Honar N; Zahmatkeshan M; Jassbi A; Mahboubifar M; Alborzi A
Sci Rep; 2021 Mar; 11(1):7040. PubMed ID: 33782433
[TBL] [Abstract][Full Text] [Related]
4. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.
Beyzaei Z; Geramizadeh B; Karimzadeh S
Orphanet J Rare Dis; 2020 Oct; 15(1):286. PubMed ID: 33054851
[TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI; Medrano C; Navarrete R; Desviat LR; Merinero B; Rodríguez-Pombo P; Vitoria I; Ugarte M; Pérez-Cerdá C; Pérez B
Genet Med; 2016 Oct; 18(10):1037-43. PubMed ID: 26913919
[TBL] [Abstract][Full Text] [Related]
6. [Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].
Zhao G; Si W; Zhao X; Liu L; Wang C; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):988-991. PubMed ID: 36082571
[TBL] [Abstract][Full Text] [Related]
7. Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.
Ponzi E; Maiorana A; Lepri FR; Mucciolo M; Semeraro M; Taurisano R; Olivieri G; Novelli A; Dionisi-Vici C
J Pediatr; 2018 Nov; 202():272-278.e4. PubMed ID: 30193751
[TBL] [Abstract][Full Text] [Related]
8. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS; Goldstein J; Austin SL; Arn P; Bachrach B; Bali DS; Chung WK; El-Gharbawy A; Brown LM; Kahler S; Pendyal S; Ross KM; Tsilianidis L; Weinstein DA; Watson MS;
Genet Med; 2019 Apr; 21(4):772-789. PubMed ID: 30659246
[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. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J; Zhang VW; Feng Y; Tian X; Li FY; Truong C; Wang G; Chiang PW; Lewis RA; Wong LJ
Invest Ophthalmol Vis Sci; 2014 Aug; 55(10):6213-23. PubMed ID: 25097241
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Splicing abnormalities caused by a novel mutation in the
Zhang ZH; Zheng BX; Zhuo YJ; Jin Y; Liu ZF; Zheng YC
Zhonghua Gan Zang Bing Za Zhi; 2023 Apr; 31(4):428-432. PubMed ID: 37248983
[No Abstract] [Full Text] [Related]
13. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G; Thompson EM; Todd EJ; Yau KS; Kresoje N; Sivadorai P; Friend K; Riley K; Manton ND; Blumbergs P; Fietz M; Duff RM; Davis MR; Allcock RJ; Laing NG
Neuromuscul Disord; 2013 Feb; 23(2):165-9. PubMed ID: 23218673
[TBL] [Abstract][Full Text] [Related]
14. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R; Park HD; Kang B; Choi SY; Ki CS; Lee SY; Kim JW; Song J; Choe YH
BMC Med Genet; 2016 Apr; 17():33. PubMed ID: 27103379
[TBL] [Abstract][Full Text] [Related]
15. Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F; Pinheiro FC; Bettio Soares M; Nalin T; Ribeiro EM; Steiner CE; Ribeiro Valadares E; Porta G; Fishinger Moura de Souza C; Schwartz IVD
Mol Genet Genomic Med; 2019 Nov; 7(11):e877. PubMed ID: 31508908
[TBL] [Abstract][Full Text] [Related]
16. Novel variants in Turkish patients with glycogen storage disease.
Çakar NE; Gezdirici A; Topuz HŞ; Önal H
Pediatr Int; 2020 Oct; 62(10):1145-1150. PubMed ID: 32374048
[TBL] [Abstract][Full Text] [Related]
17. PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
Li C; Huang L; Tian L; Chen J; Li S; Yang Z
J Pediatr Endocrinol Metab; 2018 Mar; 31(3):331-338. PubMed ID: 29360628
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Beyzaei Z; Ezgu F; Geramizadeh B; Alborzi A; Shojazadeh A
BMC Pediatr; 2021 Apr; 21(1):175. PubMed ID: 33858366
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
