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Items: 9

1.

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, Tanner MS, Pronicka E, Sharrard MJ.

J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.

PMID:
17705025
2.

Glycogen metabolism.

STETTEN D Jr, STETTEN MR.

Physiol Rev. 1960 Jul;40:505-37. No abstract available.

PMID:
13834511
3.

[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses].

HERS HG.

Rev Int Hepatol. 1959;9(1):35-55. French. No abstract available.

PMID:
13646331
4.

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.

Tang NL, Hui J, Young E, Worthington V, To KF, Cheung KL, Li CK, Fok TF.

Mol Genet Metab. 2003 Jun;79(2):142-5.

PMID:
12809646
5.

Glycogen storage diseases.

Wolfsdorf JI, Weinstein DA.

Rev Endocr Metab Disord. 2003 Mar;4(1):95-102. Review. No abstract available.

PMID:
12618563
6.

Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.

Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J.

Mol Cell. 2000 Jul;6(1):139-48.

7.

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG.

Hum Mol Genet. 1998 May;7(5):865-70.

PMID:
9536091
8.

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW.

Am J Hum Genet. 1998 Apr;62(4):785-91.

9.

Uncooked cornstarch treatment for hepatic phosphorylase kinase deficiency.

Nakai A, Shigematsu Y, Takano T, Kikawa Y, Sudo M.

Eur J Pediatr. 1994 Aug;153(8):581-3.

PMID:
7957405

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