Results 291 to 300 of about 67,076 (344)

Menorrhagia in Patients With Type I Glycogen Storage Disease

Obstetrics & Gynecology, 2013
To evaluate menorrhagia in a cohort of women with glycogen storage disease type I because it appears to be an under-recognized problem in females of reproductive age.A retrospective chart review was performed on 13 menstruating patients with glycogen storage disease type I (age 23-48 years) for a diagnosis of menorrhagia.Nine (69%) (confidence interval
Vellore G. Kasturi, Priya S. Kishnani, Andra H. James, Areeg El-Gharbawy, Stephanie Austin   +4 more
openaire   +3 more sources

Sweat Electrolytes in Glycogen Storage Disease, Type I

Pediatrics, 1963
The cause of high concentration of electrolytes in sweat in a small group of patients with glycogen storage disease has interested us. Sodium and chloride concentration in sweat of three boys with glucose-6-phosphatase deficiency has been found in a range comparable to that seen in patients with cystic fibrosis of the pancreas.
Herbert I. Cohen, Ruth C. Harris
openaire   +3 more sources

Pulmonary hypertension in type I glycogen storage disease

Pediatric Cardiology, 1990
Two cases of pulmonary hypertension associated with type I glycogen storage disease (type I GSD) are reported. Before the development of pulmonary hypertension, patient 1 had been treated with dietary therapy with nocturnal gastric-drip infusion and zyloric therapy.
Masao Nakagawa, Nobuaki Furukawa, Tadashi Sawada, Kenji Hamaoka   +3 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

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

Ocular Changes of Glycogen Storage Disease Type I

Ophthalmologica, 1995
The glucose-6-phosphatase system comprises at least five different polypeptides and plays a key role in the metabolism of glucose. A defect in these proteins may cause glycogen storage disease type I (GSD I). We examined the ocular changes of two patients with GSD Ia and b.
Makoto Tamai, Toshiaki Abe
openaire   +2 more sources

Intestinal absorption in type I glycogen storage disease

The Journal of Pediatrics, 1969
Although intermittent diarrhea in type I glycogen storage disease has not been emphasized previously, we have frequently observed it as a clinical manifestation in our patients. In an attempt to delineate the etiology of the diarrhea, 8 patients with type I glycogen storage disease were studied.
George N. Donnell, Maurice D. Kogut, Richard N. Fine   +2 more
openaire   +3 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

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