Results 231 to 240 of about 25,851 (276)

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

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 ...
Reitsma-Bierens, W.C.C., REITSMABIERENS, WCC   +1 more
openaire   +4 more sources

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
core   +6 more sources

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
openaire   +3 more sources

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European Journal of Pediatrics, 2002
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
Philippe Labrune, Kurt Ullrich, Udo Wendel   +2 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

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 ...
R N, Fine, W A, Wilson, G N, Donnell
openaire   +4 more sources

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
openaire   +2 more sources

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.
Visser, G, Rake, JP, Kokke, FTM, Nikkels, PGJ, Sauer, PJJ, Smit, GPA   +5 more
openaire   +3 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.
J, Limmer, W E, Fleig, D, Leupold, R, Bittner, H, Ditschuneit, H G, Beger   +5 more
openaire   +2 more sources

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
openaire   +2 more sources