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In two patients suffering from infantile and juvenile types of alpha-1,4 glucosidase deficiency (Pompe's disease, glycogen storage disease types 2a and 2b) with typical lysosomal glycogen storage, widespread dry "ichthyosiform" scaling skin was observed. The clinical and microscopical findings resembled those of ichthyosis vulgaris. Even in the cytoplasm of keratinocytes vacuolar glycogen accumulation was demonstrated, suggesting a correlation between this pathological storage process and the symptom of "scaling". Therefore, ichthyosiform scaling conditions should be investigated not only for disorders of lipid metabolism but also for a possible disturbance of the carbohydrate-digesting enzymes.
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
March 1977,
Annals of neurology,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
November 1971,
The Journal of pediatrics,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
September 1984,
Anales espanoles de pediatria,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
January 1973,
Scandinavian journal of clinical and laboratory investigation,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
August 1985,
American journal of obstetrics and gynecology,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
March 1978,
Clinica chimica acta; international journal of clinical chemistry,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
January 1987,
Enzyme,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
January 1990,
Journal of inherited metabolic disease,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
November 1976,
Clinica chimica acta; international journal of clinical chemistry,
W Gebhart, and
M Mainitz, and
W Jurecka, and
G Niebauer, and
E Paschke, and
S Stöckler, and
E Sluga
April 1976,
Southern medical journal,
