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Article

The carbohydrate deficient glycoprotein syndrome in three Japanese children.

Brain & development - 1 Jan 1992

Ohno K, Yuasa I, Akaboshi S, Itoh M, Yoshida K, Ehara H, Ochiai Y, Takeshita K

Abstract excerpt

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo...

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PMID: 1590525
DOI: 10.1016/s0387-7604(12)80276-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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