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Tags: 2001, Adolescent, Adult, Archives of Disease in Childhood, Ataxia/genetics/metabolism, Atrophy/genetics/metabolism, Backlog, Carbohydrate-Deficient Glycoprotein Syndrome/genetics/metabolism, Cephalometry, Cerebellum/pathology, Child, Developmental Disabilities/genetics/metabolism, Facies, Failure to Thrive/genetics/metabolism, Female, Genotype, Glycosylation, Growth Disorders/genetics/metabolism, Humans, Infant, Journal Article, Kjaergaard S, Liver Function Tests, Male, Newborn, Phenotype, Preschool, Prognosis, Q3 Scoping Review Results, Schwartz M, Seizures/genetics/metabolism, Skovby F
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