Results 211 to 220 of about 25,377 (250)

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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Sonographic findings in type I glycogen storage disease

Journal of Clinical Ultrasound, 2001
AbstractPurposeThe aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role of sonography in diagnosing that disease.MethodsFourteen patients (age range, 3–26 years; 10 ...
C. Pozzato, A. Botta, C. Melgara, L. Fiori, M.L. Giannì, E. Riva   +5 more
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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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Ocular Changes of Glycogen Storage Disease Type I

Ophthalmologica, 2010
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 la and b.
T, Abe, M, Tamai
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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 ...
Y T, Chen, M, Cornblath, J B, Sidbury
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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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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,
C C, Folk, H L, Greene
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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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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to develop guidelines about (long-term) management and follow-up, and to develop therapeutic strategies, the collaborative European Study on GSD I (ESGSD I) was initiated ...
Rake JP, Visser G, Labrune, Leonard, Ullrich, Smit GPA, Skladal D, Endres W, Sokal E, Zeman J, Labrune PH, Buhrdel P, Ullrich K, Wendel U, Lee P, Leonard JV, Szonyi L, Gandullia p, M di Rocco, R Gatti, Melis D, G Andria, S Moses, J Taybert, E Pronincka, H Ozen, A Kocak   +26 more
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