Results 311 to 320 of about 556,889 (346)

Insulin Secretion in Type I Glycogen Storage Disease

Diabetes, 1969
Patients with type I glycogen storage disease (glucose-6- phosphatase deficiency) have marked hypoglycemia in infancy but tend to become normoglycemic as they grow older. In addition, these patients characteristically demonstrate abnormal glucose tolerance curves.
M. L. Greene, D. H. Lockwood, T. J. Merimee, Wilfred Y. Fujimoto, J. E. Seegmiller, R. Rodney Howell, Paul J. Edgar   +6 more
openaire   +3 more sources

GLYCOGEN STORAGE DISEASE: TYPE I-Reply

Archives of Pediatrics & Adolescent Medicine, 1969
To the Editor .—Thank you for giving us the opportunity to reply to Dr. Hockman's letter concerning our article which appeared inThe Journal. Our ophthalmoscopic findings in the patients with GSD, type 1 were not consistent with the classical description of lipemic retinalis.
George N. Donnell, Warren A. Wilson, Richard N. Fine   +2 more
openaire   +2 more sources

Emerging therapies for glycogen storage disease type I

Trends in Endocrinology & Metabolism, 2009
Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding
Deeksha Bali, Priya S. Kishnani, Yuan-Tsong Chen, Yuan-Tsong Chen, Dwight D. Koeberl   +4 more
openaire   +3 more sources

Hypovitaminosis D in glycogen storage disease type I

Molecular Genetics and Metabolism, 2010
Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (
Anne Boney, Stephanie Austin, Priya S. Kishnani, Thomas Weber, Suhrad G. Banugaria   +4 more
openaire   +3 more sources

Dietary management of Type I glycogen storage disease

Journal of the American Dietetic Association, 1984
The most commonly recognized type of glycogen storage disease (von Gierke's disease) results from deficient glucose-6-phosphatase activity. This enzyme is the last step in the release of free glucose from the liver into the circulation. Thus, the most prominent and life-threatening complication in the illness is severe and often prolonged hypoglycemia,
Harry L. Greene, Cathy C. Folk
openaire   +3 more sources

Cornstarch Therapy in Type I Glycogen-Storage Disease

New England Journal of Medicine, 1984
TYPE I glycogen-storage disease, an inherited absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestines, is associated with the accumulation of glycogen in those ...
James B. Sidbury, Marvin Cornblath, Yuan-Tsong Chen   +2 more
openaire   +2 more sources

FDG PET/CT in Type I Glycogen Storage Disease

Clinical Nuclear Medicine, 2016
Type I glycogen storage disease (GSD) is a rare autosomal recessive disorder caused by glucose-6-phosphatase deficiency. We report herein the particular pattern provided by FDG PET imaging in a 33-year-old patient with type Ib GSD. PET images yielded evidence of a pulmonary infectious focus as well as of: (1) a dramatically enlarged liver leading to a ...
Manca, Chloé, Claudin, Marine, Belle, Arthur, Marie, Pierre Yves, Verger, Antoine   +4 more
openaire   +3 more sources

Glycogen storage disease type I in Tunisia: An epidemiological analysis

Journal of Inherited Metabolic Disease, 2008
SummaryObjective: Analysis of epidemiological data concerning GSD I in Tunisia. Subjects and methods: All the cases diagnosed as GSD I between 1992 and 2005 in a paediatric department recruiting all the metabolic diseases referred from the North of Tunisia were reviewed. Individual data (sex, socioeconomic and educational background, geographic origins,
H. Ben Turkia, Hatem Azzouz, Neji Tebib, Wafa Cherif, A. Ben Chehida, S. Abdelmoula, M. Ben Dridi   +6 more
openaire   +3 more sources

Ischemic stroke in an adult with glycogen storage disease type I

Journal of Clinical Neuroscience, 2010
Glycogen Storage Disease Type I (GSD-I) is a metabolic disorder characterized by deficiency of glucose-6-phosphatase resulting in ineffective glycogen metabolism to glucose. These patients frequently have hyperlipidemia, among many other metabolic derangements. There is no consensus regarding the risk of developing atherosclerosis.
Stanley Tuhrim, Bradley N. Delman, J.M. Goulart, J.Y. Yoo, Kathryn F. Kirchoff-Torres   +4 more
openaire   +3 more sources

Dental management of a patient with glycogen storage disease type I

The Journal of the American Dental Association, 1985
Patients with glycogen storage disease type I (GSD I) have varied medical problems, including a bleeding diathesis characterized by a prolonged bleeding time. A case of a patient with GSD I having a history of medical problems, some of which were related to oral and dental bleeding, was presented. The patient was cariesfree and had generalized moderate
Edward C. Marshall, Stephen A. Ralls, Stephen A. Ralls   +2 more
openaire   +3 more sources