Possible diagnosis of type 1b glycogen storage disease using frozen liver biopsies.
Maire
I
I
Centre d'Etude des Maladies Métaboliques, Lyon, France.
Mathieu
M
M
D001706:Biopsy; D015925:Cryopreservation; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000201:enzymology*; D010744:Phosphoric Monoester Hydrolases / Q000378:metabolism
C023553:mannose-6-phosphatase; D010744:Phosphoric Monoester Hydrolases; D005952:Glucose-6-Phosphatase