Results 21 to 30 of about 25,851 (276)

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, Adriana Maria Alves de Tommaso, Gabriel Hessel   +2 more
doaj   +2 more sources

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, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato   +8 more
doaj   +1 more source

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 ), Bernier, Angelina V. ( author ), Correia, Catherine E. ( author ), Haller, Michael J. ( author ), Theriaque, Douglas W. ( author ), Shuster, Jonathan J. ( author ), Weinstein, David A. ( author )   +6 more
openaire   +3 more sources

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
openaire   +2 more sources

Glycogen Storage Disease Type I: Prognostic Factors and Treatment

, 2023
Glycogen storage disease type I (GSD I) is an inherited disorder that hinders the ability of the liver to effectively break down stored glycogen, leading to difficulties in maintaining appropriate blood sugar levels.
Teboho Alfred Moerane, Vuyiswa Kama
core   +3 more sources

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

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, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +1 more source

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, Julio Henrique Muzetti, Julio Henrique Muzetti, Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Diagnostics, 2021
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter   +8 more
doaj   +1 more source

The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I [PDF]

Pediatric Research, 1977
After the infusion of fructose, 0.25 g/kg body weight, blood uric acid levels were significantly increased above the mean basal value in five patients with glycogen storage disease (GSD), type I (P less than 0.02-P less than 0.05). The mean fasting blood inorganic phosphate (Pi) level in the patients was 3.9 +/- 0.3 mg/100 ml and was significantly ...
T F, Roe, M D, Kogut
openaire   +2 more sources

How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

Autopsy and Case Reports, 2020
Mucormycosis is an increasingly frequent, difficult to diagnose, difficult to treat, often fatal infection, especially in patients with hyperglycemia from uncontrolled diabetes.
Larry Nichols, Diana Alejandra Rios
doaj   +1 more source