Results 1 to 10 of about 130,693 (343)

Glycogen Storage Disease in Adults

Annals of Internal Medicine, 1994
To identify complications amenable to prevention in adults with glycogen storage disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors.Case series and clinical review.Referral medical centers in the United States and Canada.All patients with GSD-Ia (37 patients), GSD-Ib (5 patients), and GSD-III (9 patients ...
G M, Talente, R A, Coleman, C, Alter, L, Baker, B I, Brown, R A, Cannon, Y T, Chen, J F, Crigler, P, Ferreira, J C, Haworth, G E, Herman, R M, Issenman, J P, Keating, R, Linde, T F, Roe, B, Senior, J I, Wolfsdorf   +16 more
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Glycogen Storage Disease of the Myocardium

Diseases of the Chest, 1957
Abstract 1.A case of glycogen storage disease of the myocardium is presented with additional evidence of hepatic, renal and bladder involvement. The clinieal course and autopsy findings are described. 2.The glycogen storage diseases are now recognized as being manifestations of abnormal metabolism of glycogen.
W F, MAZZITELLO, J F, BRIGGS
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Glycogen storage disease

Seminars in Hematology, 2002
Glycogen storage disease (GSD) is a rare autosomal-recessive disorder characterized by hypoglycemia, hepatosplenomegaly, seizures, and failure to thrive in infants. Neutropenia and/or neutrophil dysfunction develops in GSD1b, but not in other types. GSD1b results from a deficiency of the glucose-6-phosphate translocase enzyme and the genetic defect ...
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Glycogen storage disease of the heart∗

The American Journal of Cardiology, 1965
Abstract A case of a 4 1 2 month old male infant with glycogen storage disease of the heart is presented. This is the first one described in Mexico. The clinical findings, electrocardiogram and chest roentgenogram were briefly analyzed. With present knowledge, an accurate diagnosis of the disease can be made during life, mainly from the ...
C, PEREZTREVINO, B, MOLINAZAPATA, C, GUZMANGARCIA, A, MERIZALDE, A, RICALDE   +4 more
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Diagnosis of glycogen storage disease

Journal of Inherited Metabolic Disease, 1990
SummaryGlycogen storage diseases are associated with more than 15 different enzyme deficiencies and can be clinically divided mainly into two groups, those that affect primarily the liver and those that affect principally the muscle. In this report each glycogenosis has been clinically and biochemically documented and possibilities for an accurate and ...
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Molecular diagnosis of glycogen storage disease type I: a review

EXCLI Journal : Experimental and Clinical Sciences, 2019
Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for ...
Zahra Beyzaei, B. Geramizadeh
semanticscholar   +1 more source

Gout and Glycogen Storage Disease

Annals of Internal Medicine, 1963
Excerpt A brother and 2 sisters, known from childhood to have had glycogen storage disease of the liver (Von Gierke's disease), survived to adult life. The course of their disorder was followed.
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Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia.

Journal of Hepatology, 2018
BACKGROUND & AIMS Glycogen storage disease type Ia (GSDIa) is a rare genetic disease associated with glycogen accumulation in hepatocytes and steatosis. With age, most adult patients with GSDIa develop hepatocellular adenomas (HCA), which can progress to
M. Gjorgjieva, J. Calderaro, Laure Monteillet, Marine Silva, M. Raffin, M. Brevet, C. Romestaing, D. Roussel, J. Zucman‐Rossi, G. Mithieux, F. Rajas   +10 more
semanticscholar   +1 more source

Glycogen storage disease of the liver

The Indian Journal of Pediatrics, 1958
A case of Von Gierke’s disease with clinical features and investigations is described. The diagnosis, some theories of causation, and treatment are discussed.
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Glycogen storage disease

Paediatrics and Child Health, 2011
Glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. This accumulation is the histological hallmark of these disorders although the phenotype shows variable overlap. Hepatomegaly, hypoglycaemia, elevated lactate and urate with or without neutrophil dysfunction is the ...
Christian J. Hendriksz, Paul Gissen
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