Portacaval Shunt for Glycogen Storage Disease and Hyperlipidaemia [PDF]
, 1978 Complete portacaval shunt was used to treat 10 patients with glycogen storage disease. A favourable effect was noted on body growth and a number of metabolic abnormalities.
Thomas E. Starzl +3 more
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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation [PDF]
Molecular Genetics and Metabolism Reports, 2020 Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene.
Thorsten Marquardt +10 more
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Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report [PDF]
Journal of Medical Case Reports, 2008 Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth ...
Dagdelen Selcuk +3 more
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Glycogen storage disease [PDF]
Archives of Disease in Childhood, 1944 Marjorie Crago
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Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia [PDF]
Nature CommunicationsGlycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pathogenic G6PC1-
Irina Arnaoutova +27 more
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Anesthesia and Glycogen-storage Disease [PDF]
Anesthesiology, 1968 John M. Cox
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"Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: Two case reports [PDF]
, 2021 BACKGROUND Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I.
Austin S. +5 more
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Ketotic hypoglycemia in patients with Down syndrome
JIMD Reports, 2021 Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the ...
Danielle Drachmann +4 more
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NOT EVERY RESPIRATORY FAILURE NOWDAYS IS COVID. POMPE DISEASE [PDF]
, 2022 Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase.
Galjuf, Vesna +2 more
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METABOLIC VS INFLAMMATORY MYOPATHY: DIAGNOSTIC DIFFICULTIES AND ERRORS IN MYOPATHIES – CASE REPORT [PDF]
Romanian Journal of Rheumatology, 2019 Glycogen storage diseases are genetic metabolic disorders of glycogen metabolism. There are more than 12 types and they are grouped based on the enzyme deficiency and the affected tissue.
Andra-Patricia Stanciu +3 more
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