Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

Glucose-6-Phosphatase of the Liver in Glycogen Storage Disease

Gerty T. Cori, Carl F. Cori · Journal of Biological Chemistry · 1952 · 597 citations · Full text

Life Sciences, Biochemistry, Pathology +12

Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a

Ke-Jian Lei, L L Shelly, Chi‐Jiunn Pan et al. · Science · 1993 · 386 citations

Life Sciences, Genetics, Molecular Genetics +13

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

Gepke Visser, J. P. Rake, John Fernandes et al. · The Journal of Pediatrics · 2000 · 260 citations

Medicine, Hematology, Immunology +17

Sequence of a putative glucose 6‐phosphate translocase, mutated in glycogen storage disease type Ib¹

Isabelle Gerin, Maria Veiga‐da‐Cunha, Younès Achouri et al. · FEBS Letters · 1997 · 215 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Inactivation of the Glucose 6-Phosphate Transporter Causes Glycogen Storage Disease Type 1b

Hisayuki Hiraiwa, Chi‐Jiunn Pan, Baochuan Lin et al. · Journal of Biological Chemistry · 1999 · 172 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17