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Items: 18

1.

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.

Am J Hum Genet. 2005 Jun;76(6):1034-49. Epub 2005 May 2.

2.

[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage].

Ofir M, Hochhauser E, Vidne BA, Freimark D, Arad M.

Harefuah. 2007 Oct;146(10):770-5, 813-4. Review. Hebrew.

PMID:
17990392
3.

PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.

Gollob MH, Green MS, Tang AS, Roberts R.

Curr Opin Cardiol. 2002 May;17(3):229-34. Review.

PMID:
12015471
4.

Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.

Elleder M, Shin YS, Zuntová A, Vojtovic P, Chalupecký V.

Virchows Arch A Pathol Anat Histopathol. 1993;423(4):303-7. Review.

PMID:
8236826
5.

Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.

Gollob MH.

Biochem Soc Trans. 2003 Feb;31(Pt 1):228-31. Review.

PMID:
12546691
6.

[Inherited metabolic cardiomyopathies].

Germain DP, Linhart A, Desnos M, Hagège AA.

Presse Med. 2007 Mar;36 Spec No 1:1S48-54. Review. French.

PMID:
17546768
7.

AMP-activated protein kinase in metabolic control and insulin signaling.

Towler MC, Hardie DG.

Circ Res. 2007 Feb 16;100(3):328-41. Review.

8.

Genetic deficiencies of the glycogen phosphorylase system.

Hendrickx J, Willems PJ.

Hum Genet. 1996 May;97(5):551-6. Review.

PMID:
8655128
9.
10.

Bypassing the glucose/fatty acid cycle: AMP-activated protein kinase.

Carling D, Fryer LG, Woods A, Daniel T, Jarvie SL, Whitrow H.

Biochem Soc Trans. 2003 Dec;31(Pt 6):1157-60. Review.

PMID:
14641016
11.

Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?

Light PE.

J Cardiovasc Electrophysiol. 2006 May;17 Suppl 1:S158-S161. Review.

PMID:
16686673
12.

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. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11. Review.

PMID:
24326380
13.

Muscle glycogenosis.

Moses SW.

J Inherit Metab Dis. 1990;13(4):452-65. Review.

PMID:
2122112
14.

Clinical Spectrum of PRKAG2 Syndrome.

Porto AG, Brun F, Severini GM, Losurdo P, Fabris E, Taylor MRG, Mestroni L, Sinagra G.

Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003121. doi: 10.1161/CIRCEP.115.003121 e003121. Review. No abstract available.

15.

Phosphorylase b kinase deficiency in man: a review.

Van den Berg IE, Berger R.

J Inherit Metab Dis. 1990;13(4):442-51. Review.

PMID:
2122111
16.

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Beamer LJ.

J Inherit Metab Dis. 2015 Mar;38(2):243-56. doi: 10.1007/s10545-014-9757-9. Epub 2014 Aug 29. Review.

PMID:
25168163
17.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.

Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Review.

18.

What have we learned about glycogenosis in recent years?

Laforêt P.

Rev Neurol (Paris). 2016 Oct;172(10):541-545. doi: 10.1016/j.neurol.2016.08.001. Epub 2016 Sep 20. Review.

PMID:
27663060

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