HIGHLIGHTS
- who: Clara D. M. van Karnebeek from the University of Sousse, Tunisia Italian National Research Council, Italy have published the paper: NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum, in the Journal: (JOURNAL)
- what: As short limbs and skeletal anomalies are such prominent features in the first NANS-CDG report , the authors provided an overview of all CDG subtypes with any type of bone abnormality. The authors provide the first results of experimental sialic acid supplementation in a prenatally diagnosed NANSCDG patient, as the first exploratory evaluation of the efficacy and safety of . . .
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