Results 281 to 290 of about 67,076 (344)

Glycogen storage disease: type I.

Archives of Pediatrics & Adolescent Medicine, 1969
To the Editor .—I read with interest Dr. Richard Fine's article inThe Journal(Amer J Dis Child115:238-331 [March] 1968). I would like to make some comments with regard to the author's statement: "Retinal changes have not been previously described in patients with GSD Type I." Newer mentioned Von Gierke's disease among conditions in which lipemia ...
I. H. Hockman
semanticscholar   +4 more sources

Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment.
J. Rake, G. Visser, P. Labrune, J. Leonard, K. Ullrich, P. G. Smit   +5 more
semanticscholar   +6 more sources

Renal Disease in Type I Glycogen Storage Disease

New England Journal of Medicine, 1988
Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients with Type I glycogen storage disease under our care, the 18 children under 10 years old had normal ...
P. C. Kolbeck, Jon I. Scheinman, Yuan-Tsong Chen, James B. Sidbury, Rosalind A. Coleman   +4 more
openaire   +3 more sources

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
openaire   +4 more sources

Pulmonary hypertension in glycogen storage disease type I [PDF]

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 ...
Yuan-Tsong Chen, Priya S. Kishnani, A. R. Bengur   +2 more
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Intestinal function in glycogen storage disease type I

Journal of Inherited Metabolic Disease, 2002
AbstractGlycogen storage disease type I (GSD I) (McKusick 232200) is caused by inherited defects of the glucose‐6‐phosphatase complex. Patients with GSD Ia as well as patients with GSD Ib may suffer from intermittent diarrhoea, which seems to worsen with age. The cause of this diarrhoea is unknown.
F. T. M. Kokke, Gepke Visser, P. J. J. Sauer, Jan Peter Rake, P. G. J. Nikkels, Gerrit Smit   +5 more
openaire   +4 more sources

Renal complications in glycogen storage disease type I [PDF]

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 ...
openaire   +3 more sources

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 ...
P. Lee
semanticscholar   +4 more sources

Hepatocellular carcinoma in type I glycogen storage disease

Hepatology, 1988
Patients suffering from Type I glycogen storage disease frequently develop hepatic tumors. Some of these were classified as carcinoma, with the majority of tumors representing benign adenomata. However, no evidence exists of malignant transformation of adenomata in these patients.
Reinhard Bittner, D. Leupold, Joachim Limmer, Wolfgang E. Fleig, Hans Ditschuneit, Hans-Günter Berger   +5 more
openaire   +3 more sources