Results 301 to 310 of about 556,889 (346)

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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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
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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 ...
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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
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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
Vellore G. Kasturi, Priya S. Kishnani, Andra H. James, Areeg El-Gharbawy, Stephanie Austin   +4 more
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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
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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 ...
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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.
Makoto Tamai, Toshiaki Abe
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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.
George N. Donnell, Maurice D. Kogut, Richard N. Fine   +2 more
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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.
Masao Nakagawa, Nobuaki Furukawa, Tadashi Sawada, Kenji Hamaoka   +3 more
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