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. +4 more
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Вестник трансплантологии и искусственных органов, 2013 Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders.
S. V. Gautier +4 more
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693 Increased aortic stiffness in glycogenosis type 2 (Pompe's disease) [PDF]
, 2006 Attila Nemes +7 more
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Isolated glycogen storage disease of the heart
Российский кардиологический журнал, 2019 Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova +4 more
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Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b [PDF]
, 2023 Latifa Chkioua +8 more
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Glycogenosis type II : a study on clinical heterogeneity and enzyme replacement therapy [PDF]
, 1989 Glycogenosis type II is a lysosomal storage disorder caused by deficiency of acid a-glucosidase and characterized by heart failure and skeletal muscle weakness.
Ploeg, A.T. (Ans) van der
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RESULTS OF LIFE QUALITY EVALUATION IN CHILDREN WITH HEPATIC VARIANT OF GLYCOGEN DISEASE
Педиатрическая фармакология, 2013 Glycogen storage disease (glycogenosis) is a common name for a group of hereditary diseases characterized by excessive accumulation of glycogen with normal or altered structure in various organs and tissues, most often – in liver and muscles.
A. N. Surkov +5 more
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Diagnosis Recommendations for Late-onset Pompe Disease [PDF]
, 2014 INTRODUCTION: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to ...
Alves, J. +8 more
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Genotype-phenotype correlation in adult-onset acid maltase deficiency [PDF]
, 1995 We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult‐onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(– 13T→G) transversion on one allele; the second allele ...
Amstel, H.K.P. van +9 more
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Light and Electron Microscopy in a Case of Myophosphorylase Deficiency (Glycogenosis V or McArdle Disease) [PDF]
, 2002 Michael G. Hadfield +2 more
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