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Epidemiologic data (mode of transmission, setting and size of the outbreak, persons affected, persons at risk, attack rate, and age of affected persons) were recorded on a standardized form submitted to the National Microbiology Center.
Affected persons lack the enzyme amylo-1,6-glucosidase, one of several enzymes involved in glycogen breakdown.
Affected persons seem to be normally developed females but have a chromosomal sex that is that of the normal male.
Affected persons may note that their eyes are painful, tend to water, and are sensitive to light.
Affected persons are usually, but not always, healthy (1, 2 ).
If related affected persons appeared on the registry, only the first to be listed was included.
To quantify the relative weight of both factors, a questionnaire was developed and sent to 27 affected persons.
Many affected persons survive into adult life.
Nine out of 10 affected persons recover completely.
Intelligence is normal, but the lifespan is greatly shortened; affected persons seldom survive beyond age 20.
All three varieties appear in early childhood, and affected persons usually die by age 20.
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