Results 71 to 80 of about 6,242,042 (194)

Placental Involvement in Glycogen Storage Disease Type IV

, 2008
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen branching enzyme (GBE) deficiency and resulting in the storage of abnormal glycogen (polyglucosan).
Dertinger, S., DiMauro, S., Konstantinidou, A.E., Patsouris, E., Nonni, A., Petersen, M., Marinos, E., Anninos, H., Akman, H.O., Havaki, S., Karadimas, C.   +10 more
core   +1 more source

Oral manifestations in glycogen storage disease type 1b

, 1995
Glycogen storage disease type 1b is a rare metabolic disorder which affects the transport system of glucose‐6‐phosphatase metabolism. As a result, hepatomegaly, failure to thrive, renal dysfunction and recurrent infections occur in affected patients.
Drogari, E., Harokopos, E., Laskaris, G., Messaritakis, J., Salapata, Y.   +4 more
core   +1 more source

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis

Biomolecules
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfer ...
Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon   +11 more
doaj   +1 more source

Glycogen Storage Liver Diseases

, 2019
The glycogen storage diseases are a group of disorders with aberrant synthesis or degradation of glycogen. The liver forms of the disease are characterized by fasting hypoglycemia.
David A. Weinstein, Terry G.J. Derks, Weinstein, David A., Derks, Terry G.J.; id_orcid   +3 more
core   +1 more source

Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia

Nature Communications
Glycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pathogenic G6PC1-
Irina Arnaoutova, Yvonne Aratyn-Schaus, Lisa Zhang, Michael S. Packer, Hung-Dar Chen, Cheol Lee, Sudeep Gautam, Francine M. Gregoire, Dominique Leboeuf, Steven Boule, Thomas P. Fernandez, Victoria Huang, Lo-I Cheng, Genesis Lung, Brianna Bannister, Jeremy Decker, Thomas Leete, Lan S. Shuang, Caroline Bock, Prachi Kothiyal, Phil Grayson, Ka W. Mok, Jeffrey J. Quinn, Lauren Young, Luis Barrera, Giuseppe Ciaramella, Brian C. Mansfield, Janice Y. Chou   +27 more
doaj   +1 more source

PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1

Revista Paulista de Pediatria
Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. Case description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent ...
Adriana Maria Alves de Tommaso, Gabriel Hessel, Adriana Gut Riccetto, Graziela de Oliveira Semenzati, Reinaldo Jordão Gusmão   +4 more
doaj   +1 more source

Glycogen Storage Disease [PDF]

Proceedings of the Royal Society of Medicine, 1965
openaire   +2 more sources

Neonatal Glycogen Storage Disease Ia

Pediatrics and Neonatology, 2015
Jinping Zhang, Wenjing Shi, Chao Chen
doaj   +1 more source

Glycogen-storage Disease of Liver [PDF]

BMJ, 1956
C C, KAPILA, S, KAUL, B C, CHATTERJEE
openaire   +2 more sources

Glycogen storage disease [PDF]

Archives of Disease in Childhood, 1944
openaire   +2 more sources