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视神经萎缩、肌张力降低、视力障碍、去大脑强直、婴儿喂养困难、角弓反张、惊厥
Canavan disease is ASPA deficiency; spongy degeneration of white matter; macrocephaly; hypotonia; infants; developmental regression; fatal; supportive; pediatric neurology/genetics.
Macrocephaly; hypotonia; developmental regression; infant; Canavan; fatal
ASPA mutation; AR; Canavan; white matter.
Supportive; no cure; pediatric neurology/genetics; gene therapy selected
Pediatric neurology / pediatrics / genetics.
Warm reminder: Health education reference only; seek care at regular hospital.
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