PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
PMID 10323254 1999 Molecular diagnosis of type 1c glycogen storage disease.
PMID 28224773 2017 Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
PMID 24646511 2014 Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.
PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
PMID 26913919 2016 Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
PMID 10940311 2000 Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
rs80356491 in
SLC37A4;TRAPPC4 gene and
Glycogen Storage Disease
PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
PMID 10323254 1999 Molecular diagnosis of type 1c glycogen storage disease.