Results 221 to 230 of about 25,377 (250)
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Hemorrhagic pancreatitis in a patient with glycogen storage disease type I
Clinical Genetics, 1980A 17–year‐old female with glycogen storage disease type I (GSD‐I) died suddenly with hemorrhagic pancreatitis. She had a long‐standing history of hyperlipidemia that did not respond to a regimen of frequent daytime and nocturnal intragastric feeding.
V V, Michels, A L, Beaudet
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Endogenous glucose production in type I glycogen storage disease
Metabolism, 1981The adaptive mechanisms that protect some patients with Type I glycogen storage disease from fasting hypoglycemia were examined in two young adults. Both maintained low normal fasting plasma glucose concentrations even during 3 day fasts; blood lactate concentrations increased during the first 12 hr and then decreased to normal during the second and ...
R C, Powell, S M, Wentworth, I K, Brandt
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FDG PET/CT in Type I Glycogen Storage Disease
Clinical Nuclear Medicine, 2016Type 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 +4 more
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GLYCOGEN STORAGE DISEASE: TYPE I-Reply
Archives of Pediatrics & Adolescent Medicine, 1969To the Editor .—Thank you for giving us the opportunity to reply to Dr. Hockman's letter concerning our article which appeared inThe Journal. Our ophthalmoscopic findings in the patients with GSD, type 1 were not consistent with the classical description of lipemic retinalis.
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Type I glycogen storage disease
Type I glycogen storage disease is a disorder of glucose-6-phosphate breakdown, associated with impaired glycogenolysis and gluconeogenesis. It typically presents in infancy with hypoglycaemia, hyperlacticacidaemia, hypertriglyceridaemia, and hepatomegaly.Provision of a continuous glucose source is the mainstay of treatment, often in the form of ...Derks, Terry G.J. +2 more
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Dietary dilemmas in the management of glycogen storage disease type I
Journal of Inherited Metabolic Disease, 2011AbstractOver the last 50 years, understanding the biochemical bases of glycogen storage disease type I has led to vastly improved survival and health outcomes but the management still centres around an extremely intensive dietary regimen. Patients’ metabolic profiles are really determined by the whole of the diet and it can be very difficult to adjust ...
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Peliosis hepatis with type I glycogen storage disease
Journal of Inherited Metabolic Disease, 1991H, Schmidt +3 more
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A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia
Thyroid, 2019Jin Zhou, Paul M Yen, Samuel Refetoff
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