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Results: 3

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. doi: 10.1038/gim.2012.104. Epub 2012 Aug 16.

PMID:
22899091
[PubMed - indexed for MEDLINE]
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 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.

PMID:
21646031
[PubMed - indexed for MEDLINE]
3.

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 Sep-Oct;92(1-2):88-99. Epub 2007 Aug 3.

PMID:
17689125
[PubMed - indexed for MEDLINE]

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