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Glycogen storage disease type IV diagnosed biochemically. A case report.

Authors: D J, Friedman; A B, Lane; S, Katz; T, Jenkins;

Glycogen storage disease type IV diagnosed biochemically. A case report.

Abstract

A case report of a child with glycogen storage disease type IV is presented. The diagnosis was confirmed by enzyme assay on cultured fibroblasts. Some unusual features of this disorder are discussed and the possibility of antenatal diagnosis is emphasized.

Keywords

Glycogen Storage Disease Type IV, Liver, Glucosyltransferases, 1,4-alpha-Glucan Branching Enzyme, Child, Preschool, Humans, Female, Clinical Enzyme Tests, Glycogen Storage Disease, Skin

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    selected citations
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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    3
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average
gold