Condition: Glycogen Storage Disease Type VI


rs756205397 in ABHD12B;PYGL gene and Glycogen Storage Disease Type VI PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

rs113993981 in PYGL gene and Glycogen Storage Disease Type VI PMID 9536091 1998 Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

PMID 21646031 2012 Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

PMID 9529348 1998 Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

PMID 25266922 2014 The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.