Results 11 to 20 of about 25,377 (250)
Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
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Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study [PDF]
Molecular Genetics and Metabolism Reports, 2019 Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to ...
Ghada Hijazi +6 more
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Assessment of auditory functions in patients with hepatic glycogen storage diseases
The Turkish Journal of Pediatrics, 2022 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı +9 more
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Hyperammonemia associated with glycogen storage disease type I
The Turkish Journal of Pediatrics, 1982 M Tunçer, H Yalçin, I Ozalp, M Cağlar
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ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
Revista Paulista de Pediatria, 2021 Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the ...
Natália Bauab Jorge +2 more
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Vascular Dysfunction in Glycogen Storage Disease Type I [PDF]
The Journal of Pediatrics, 2009 To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy.Carotid intima media thickness (IMT), radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 ...
Division of Pediatric Endocrinology and Glycogen Storage Disease Program, Department of Pediatrics, University of Florida, Gainesville, FL ( host institution ) +6 more
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Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Animals, 2023 Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib +8 more
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Platelet Dysfunction in Glycogen Storage Disease Type I [PDF]
Blood, 1973 Abstract A hemorrhagic tendency has been observed in patients with glycogen storage disease Type I (GSD-I). We have studied the hemostatic mechanism in six patients with GSD-I who have mild to severe bleeding tendencies. All exhibited abnormalities of platelet function (decreased prothrombin consumption, abnormal aggregation reactions ...
E E, Czapek, D, Deykin, E W, Salzman
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Neurological Characteristics of Pediatric Glycogen Storage Disease
Frontiers in Endocrinology, 2021 Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti +10 more
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Annals of Hepatology, 2018 Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen +2 more
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