A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1511428PMC
http://dx.doi.org/10.1136/adc.74.3.242DOI Listing

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