168 related articles for article (PubMed ID: 34727590)
1. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
Beyzaei Z; Ezgu F; Imanieh MH; Geramizadeh B
J Pediatr Endocrinol Metab; 2022 Mar; 35(3):417-420. PubMed ID: 34727590
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Fernandes SA; Cooper GE; Gibson RA; Kishnani PS
Mol Genet Metab; 2020 Nov; 131(3):299-305. PubMed ID: 33317799
[TBL] [Abstract][Full Text] [Related]
9. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
Johnson AO; Goldstein JL; Bali D
J Pediatr Gastroenterol Nutr; 2012 Jul; 55(1):90-2. PubMed ID: 21857251
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Albash B; Imtiaz F; Al-Zaidan H; Al-Manea H; Banemai M; Allam R; Al-Suheel A; Al-Owain M
Eur J Pediatr; 2014 May; 173(5):647-53. PubMed ID: 24326380
[TBL] [Abstract][Full Text] [Related]
14. A novel
Zhu H; Zhang T; Yuan H; Chen Y; Ding J; Ding H; Shi X; Gu D; Ma Y
Front Endocrinol (Lausanne); 2023; 14():1332450. PubMed ID: 38192425
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Bali DS; Goldstein JL; Fredrickson K; Rehder C; Boney A; Austin S; Weinstein DA; Lutz R; Boneh A; Kishnani PS
Mol Genet Metab; 2014 Mar; 111(3):309-313. PubMed ID: 24389071
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
İnci A; Kılıç Yıldırım G; Cengiz Ergin FB; Sarı S; Eğritaş Gürkan Ö; Okur İ; Biberoğlu G; Bükülmez A; Ezgü FS; Dalgıç B; Tümer L
J Pediatr Endocrinol Metab; 2022 Apr; 35(4):451-462. PubMed ID: 35038814
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]