Results 291 to 300 of about 65,519 (325)

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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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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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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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
Stephanie L, Austin, Areeg H, El-Gharbawy, Vellore G, Kasturi, Andra, James, Priya S, Kishnani   +4 more
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Endogenous glucose production in type I glycogen storage disease

Metabolism, 1981
The adaptive mechanisms that protect some patients with Type I glycogen storage disease from fasting hypoglycemia were examined in two young adults. Both maintained low normal fasting plasma glucose concentrations even during 3 day fasts; blood lactate concentrations increased during the first 12 hr and then decreased to normal during the second and ...
R C, Powell, S M, Wentworth, I K, Brandt
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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 ...
Chloé, Manca, Marine, Claudin, Arthur, Belle, Pierre Yves, Marie, Antoine, Verger   +4 more
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Type I glycogen storage disease with vasoconstrictive pulmonary hypertension

Journal of Inherited Metabolic Disease, 1989
SummaryA case of glycogen storage disease (GSD) type I with vasoconstrictive pulmonary hypertension is described.
N, Furukawa, A, Kinugasa, F, Inoue, S, Imashuku, T, Takamatsu, T, Sawada   +5 more
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Glycogen storage disease type I: pathophysiology of liver adenomas

European Journal of Pediatrics, 2002
Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those reported in the literature are thought to have an ...
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Type I glycogen storage disease

Type I glycogen storage disease is a disorder of glucose-6-phosphate breakdown, associated with impaired glycogenolysis and gluconeogenesis. It typically presents in infancy with hypoglycaemia, hyperlacticacidaemia, hypertriglyceridaemia, and hepatomegaly.Provision of a continuous glucose source is the mainstay of treatment, often in the form of ...
Derks, Terry G.J., Schreuder, Andrea B., de Boer, Foekje   +2 more
openaire   +1 more source

An overview of real‐world data sources for oncology and considerations for research

Ca-A Cancer Journal for Clinicians, 2022
Lynne Penberthy, Donna R Rivera, Jennifer L Lund, Msph   +2 more
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