Results 71 to 80 of about 109,891 (212)

Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.

, 1980
Aksel Lange, William J. Arion, Arthur L. Beaudet   +2 more
openalex   +1 more source

Liver-Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia. [PDF]

J Inherit Metab Dis
Lee C, Pratap K, Zhang L, Chen HD, Arnaoutova I, Starost MF, Mansfield BC, Chou JY.   +7 more
europepmc   +1 more source

LONG-TERM TREATMENT OF GLYCOGEN STORAGE DISEASE TYPE Ib (GSD Ib) WITH GRANULOCYTE MACROPHAGE COLONY-STIMULATING FACTOR (GM/CSF) [PDF]

, 1994
Alberto Burlina, Andrea Bordugo, Elisa Piva, Rosalia Dariol, Franco Zacehello   +4 more
openalex   +1 more source

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia. [PDF]

JIMD Rep
Laufs V, Hasenburg A, Busch MA, Lang F, Macchiella D, Mildenberger E, Seidmann L, Hennermann JB.   +7 more
europepmc   +1 more source

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY SSCP ANALYSIS.868 [PDF]

, 1996
Shimon Moses, Eli Hershkovitz, Rivka Carmi, Ruti Parvari   +3 more
openalex   +1 more source

Adenovirus-Mediated Transfer of the Acid -Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Expression of Enzyme and Corrects Glycogen Accumulation [PDF]

, 1998
Marc Nicolino, J. Puech, Eric J. Kremer, Arnold Reuser, Corinne Mbebi, Martine Verdière‐Sahuqué, A Kahn, Livia Poënaru   +7 more
openalex   +1 more source

Efficacy of magnetic resonance imaging in managing glycogen storage disease. [PDF]

Orphanet J Rare Dis
Ahn JH, Jeong YW, Choi YB, Kang Y.
europepmc   +1 more source

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia

Journal of Inherited Metabolic Disease, 2018
Jun-Ho Cho, Goo-Young Kim, B. Mansfield, J. Chou   +3 more
semanticscholar   +1 more source

Glucose production in type I glycogen storage disease

, 1982
Satish C. Kalhan, Carol Gilfillan, Kou Yi Tserng, Samuel M. Savin   +3 more
openalex   +1 more source

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan [PDF]

, 1995
Susumu Kajihara
openalex   +1 more source