Results 21 to 30 of about 6,242,042 (194)
Biochemical investigations in glycogen storage disease
The Turkish Journal of Pediatrics, 1963 Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
P Ozand, M Onay, S Balci, S Amiri
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Late Diagnosis of Fanconi-Bickel Syndrome
Journal of Inborn Errors of Metabolism and Screening, 2016 Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism.
Nirupama Gupta MD +3 more
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Patients with glycogen storage diseases undergoing anesthesia: a case series
BMC Anesthesiology, 2017 Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis,
Carmelina Gurrieri +3 more
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Annals of Internal Medicine: Clinical Cases, 2023 Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications.
Amirhossein Esmaeeli +4 more
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Radiography of glycogen storage diseases [PDF]
American Journal of Roentgenology, 1979 Sixty-three patients with glycogen storage disease were evaluated. Findings on plain film examinations, excretory urography, barium gastrointestinal studies, ultrasonography, and angiography were categorized by type of glycogen storage disease. In type I findings include hepatomegaly with hepatic dysfunction, renomegaly with an increased incidence of ...
J H, Miller, P, Stanley, G F, Gates
openaire +2 more sources
Glycogen storage disease type I (GSD I) [PDF]
, 2012 Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes ...
Mollet, Boudjemline A +5 more
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Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance [PDF]
, 1982 The livers of gsd/gsd rats homozygous for the glycogen storage disease phosphorylase b kinase deficiency were observed by 13C NMR using a surface coil. Clear signals were detected from glycogen.
Griffiths, John R. +3 more
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BRAIN GLYCOGEN – BEYOND ENERGY STORAGE IN GLYCOGEN STORAGE DISEASES
, 2023 Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessible energy storage form of glucose. However,emerging evidence supports the role of glycogen as more than a glucose storage form.
Markussen, Kia H.
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Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis
, 2002 A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study.
O. Sitbon (6612065) +11 more
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, 2014 Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme.
Li, Sing-Chung;Hwu, Wuh-Liang;Lin, Ju-Li;Bali, Deeksha S.;Yang, Chen;Chu, Shih-Ming;Chien, Yin-Hsiu;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien;Chen, Yuan-Tsong;Lee, Ni-Chung +1 more
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