190 related articles for article (PubMed ID: 12930917)
1. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Burwinkel B; Rootwelt T; Kvittingen EA; Chakraborty PK; Kilimann MW
Pediatr Res; 2003 Dec; 54(6):834-9. PubMed ID: 12930917
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
Waheed N; Saeed A; Ijaz S; Fayyaz Z; Anjum MN; Zahoor Y; Cheema HA
J Pediatr Endocrinol Metab; 2020 Sep; 33(9):1117-1123. PubMed ID: 32697758
[TBL] [Abstract][Full Text] [Related]
7. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B; Shiomi S; Al Zaben A; Kilimann MW
Hum Mol Genet; 1998 Jan; 7(1):149-54. PubMed ID: 9384616
[TBL] [Abstract][Full Text] [Related]
8. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R).
Burwinkel B; Tanner MS; Kilimann MW
J Med Genet; 2000 May; 37(5):376-7. PubMed ID: 10905889
[No Abstract] [Full Text] [Related]
9. 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]
10. A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao Y; Li T; Jiang M; Xu J; Huang Y; Li X; Zheng R; Liu L
BMC Pediatr; 2022 May; 22(1):267. PubMed ID: 35549678
[TBL] [Abstract][Full Text] [Related]
11. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
Burwinkel B; Moses SW; Kilimann MW
Hum Genet; 1997 Dec; 101(2):170-4. PubMed ID: 9402963
[TBL] [Abstract][Full Text] [Related]
12. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
Burwinkel B; Maichele AJ; Aagenaes O; Bakker HD; Lerner A; Shin YS; Strachan JA; Kilimann MW
Hum Mol Genet; 1997 Jul; 6(7):1109-15. PubMed ID: 9215682
[TBL] [Abstract][Full Text] [Related]
13. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Burwinkel B; Sanjad SA; Al-Sabban E; Al-Abbad A; Kilimann MW
Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651
[TBL] [Abstract][Full Text] [Related]
14. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B; Hu B; Schroers A; Clemens PR; Moses SW; Shin YS; Pongratz D; Vorgerd M; Kilimann MW
Eur J Hum Genet; 2003 Jul; 11(7):516-26. PubMed ID: 12825073
[TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
van Beurden EA; de Graaf M; Wendel U; Gitzelmann R; Berger R; van den Berg IE
Biochem Biophys Res Commun; 1997 Jul; 236(3):544-8. PubMed ID: 9245685
[TBL] [Abstract][Full Text] [Related]
16. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B; Amat L; Gray RG; Matsuo N; Muroya K; Narisawa K; Sokol RJ; Vilaseca MA; Kilimann MW
Hum Genet; 1998 Apr; 102(4):423-9. PubMed ID: 9600238
[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. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.
Hirono H; Hayasaka K; Sato W; Takahashi T; Takada G
Biochem Mol Biol Int; 1995 Jul; 36(3):505-11. PubMed ID: 7549948
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
