Results 131 to 140 of about 6,242,042 (194)
Avascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges. [PDF]
Oxf Med Case ReportsGorial FI +4 more
europepmc +1 more source
Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. [PDF]
Mol Genet MetabBlake JM +3 more
europepmc +1 more source
European Journal of Pediatrics, 2002 Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
G Peter A Smit, Jan Peter Rake
exaly +2 more sources
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Nature Reviews Disease Primers, 2023
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah +5 more
openaire +3 more sources
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah +5 more
openaire +3 more sources
Biochimie, 1972
In glycogen storage diseases, there is insufficient use of glycogen resulting in glycogen buildup, or insufficient synthesis of glycogen. There are multiple types of glycogen storage diseases, which can be classified in hepatic and myopathic forms. Types I, III, IV, VI, and IX affect liver primarily. Glycogen storage diseases that also affect
F, Van Hoof +5 more
openaire +2 more sources
In glycogen storage diseases, there is insufficient use of glycogen resulting in glycogen buildup, or insufficient synthesis of glycogen. There are multiple types of glycogen storage diseases, which can be classified in hepatic and myopathic forms. Types I, III, IV, VI, and IX affect liver primarily. Glycogen storage diseases that also affect
F, Van Hoof +5 more
openaire +2 more sources
Disease-a-Month, 1971
Summary In conclusion, the glycogen storage diseases represent a clinically heterogeneous group of disorders that usually become apparent in early infancy and reflect the consequences of a deficiency of enzymes essential for the normal synthesis and degradation of glycogen.
A, Drash, J, Field
openaire +2 more sources
Summary In conclusion, the glycogen storage diseases represent a clinically heterogeneous group of disorders that usually become apparent in early infancy and reflect the consequences of a deficiency of enzymes essential for the normal synthesis and degradation of glycogen.
A, Drash, J, Field
openaire +2 more sources