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Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1

โœ Scribed by Hanane Antoun; Nathalie Villeneuve; Antoinette Gelot; Sophie Panisset; Catherine Adamsbaum


Publisher
Springer-Verlag
Year
1999
Tongue
English
Weight
317 KB
Volume
29
Category
Article
ISSN
0301-0449

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Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in