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Glycogen storage disease [PDF]

Archives of Disease in Childhood, 1944
Marjorie Crago
openalex   +4 more sources

Anesthesia and Glycogen-storage Disease [PDF]

Anesthesiology, 1968
John M. Cox
openalex   +3 more sources

Glycogen storage diseases [PDF]

Acta Diabetologica Latina, 1969
The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
openaire   +6 more sources

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
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Liver transplantation for type I and type IV glycogen storage disease [PDF]

, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis, AS Guerra, B Illingworth, B. I. Brown, BI Brown, BI Brown, BI Brown, CA Alper, D Raum, DA Merrill, E. Yunis, GA Bannayan, GB Reed, GM Greene, GT Cori, H Zellweger, HG Hers, HL Greene, IT Ferguson, JJ Malatack, JJ Siekierka, KR McMaster, MW Harding, N Kashiwagi, N Kashiwagi, R. S. Kendall, R. Selby, RC Nordlie, S Servidei, S. Todo, T Ishihara, T. E. Starzl, TE Starl, TE Starzl, TE Starzl, TE Starzl, TE Starzl, V Mazzaferro   +37 more
core   +1 more source

Glycogen storage diseases: An update

World Journal of Gastroenterology, 2023
Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There
Gümüş, Ersin, Özen, Hasan
openaire   +2 more sources

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

Hepatology Communications, 2019
Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency (Pygl−/−).
Lane H. Wilson, Jun‐Ho Cho, Ana Estrella, Joan A. Smyth, Rong Wu, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein, Young Mok Lee   +8 more
doaj   +1 more source

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Педиатрическая фармакология, 2020
Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova   +7 more
doaj   +1 more source

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2017
Background Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare.
Aviva Cohn, Anupam Ohri
doaj   +1 more source