Results 281 to 290 of about 65,519 (325)

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.
R C, HARRIS, H I, COHEN
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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.
T, Abe, M, Tamai
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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.
R N, Fine, M D, Kogut, G N, Donnell
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Pulmonary hypertension in glycogen storage disease type I

Journal of Inherited Metabolic Disease, 1996
Glycogen storage disease type I (GSD I) is caused by a deficiency in one of the components of the glucose-6-phosphatase (G-6-Pase) system. Most patients have deficient G-6-Pase activity (GSD Ia) or deficient G-6-Pase translocase activity (GSD Ib). Both of these disorders result in hypoglycaemia, hepatomegaly, lactic acidaemia, hyperlipidaemia and ...
P, Kishnani, A R, Bengur, Y T, Chen
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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.
K, Hamaoka, M, Nakagawa, N, Furukawa, T, Sawada   +3 more
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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.
D H, Lockwood, T J, Merimee, P J, Edgar, M L, Greene, W Y, Fujimoto, J E, Seegmiller, R R, Howell   +6 more
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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.
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Renal complications in glycogen storage disease type I

European Journal of Pediatrics, 1993
Deficiency of the enzyme glucose-6-phosphatase is the biochemical defect in glycogen storage disease type I (GSD I). Normally this enzyme is present in the liver, intestine and kidneys. The lack of the enzyme in the kidney makes it obvious that glycogen storage will not be restricted to the liver but that also the kidneys will be involved, possibly ...
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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 (
Suhrad G, Banugaria, Stephanie L, Austin, Anne, Boney, Thomas J, Weber, Priya S, Kishnani   +4 more
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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
D D, Koeberl, P S, Kishnani, D, Bali, Y-T, Chen   +3 more
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