Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.
The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans processing. Several different subtypes have been identified in recent years. Cerebellar atrophy is a characteristic finding in subtype Ia. We report clinical, imaging and genetic findings in a patient with...
| Huvudupphovsmän: | , , , , |
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| Materialtyp: | Journal article |
| Språk: | English |
| Publicerad: |
2002
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